Frem1 Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8568570	CV39722	variation	FREM1, VAL209ILE	Oculotrichoanal syndrome [RCV000023744]	pathogenic				Human		name
329954053	CV2670912	deletion	NM_144966.5(FREM1):c.6139del	not provided [RCV003236180]	pathogenic	9	14746468	14746468	Human		name
11654534	CV307792	single nucleotide variant	NM_144966.6(FREM1):c.*437A>G	Oculotrichoanal syndrome [RCV000318576]	uncertain significance	9	14736959	14736959	Human	1	name
11656163	CV307875	single nucleotide variant	NM_144966.7(FREM1):c.-770C>T	Oculotrichoanal syndrome [RCV000331493]	uncertain significance	9	14910949	14910949	Human	1	name
11606482	CV312105	single nucleotide variant	NM_144966.6(FREM1):c.*530T>C	Oculotrichoanal syndrome [RCV000332294]	likely benign\|uncertain significance	9	14736866	14736866	Human	1	name
11604277	CV317732	single nucleotide variant	NM_144966.5(FREM1):c.*985T>G	Oculotrichoanal syndrome [RCV000307910]\|not provided [RCV004712699]	benign\|likely benign	9	14736411	14736411	Human	1	name
11600851	CV318225	single nucleotide variant	NM_144966.5(FREM1):c.*758T>A	Oculotrichoanal syndrome [RCV000277204]\|not provided [RCV004712700]	benign\|likely benign	9	14736638	14736638	Human	1	name
11610821	CV318228	single nucleotide variant	NM_144966.6(FREM1):c.*529C>T	Oculotrichoanal syndrome [RCV000386849]	benign\|likely benign	9	14736867	14736867	Human	1	name
11645041	CV318253	single nucleotide variant	NM_144966.6(FREM1):c.*456G>A	Oculotrichoanal syndrome [RCV000263433]	uncertain significance	9	14736940	14736940	Human	1	name
11609808	CV318255	single nucleotide variant	NM_144966.6(FREM1):c.*389T>C	Oculotrichoanal syndrome [RCV000373224]	benign\|uncertain significance	9	14737007	14737007	Human	1	name
11647801	CV318265	duplication	NM_144966.6(FREM1):c.*334dup	Oculotrichoanal syndrome [RCV000278673]	uncertain significance	9	14737054	14737055	Human	1	name
11600442	CV318352	single nucleotide variant	NM_144966.7(FREM1):c.-766A>C	Oculotrichoanal syndrome [RCV000274031]\|not provided [RCV004707214]	likely benign	9	14910945	14910945	Human	1	name
28880867	CV901608	single nucleotide variant	NM_144966.5(FREM1):c.*978A>G	Oculotrichoanal syndrome [RCV001167465]	uncertain significance	9	14736418	14736418	Human	1	name
28880873	CV901609	single nucleotide variant	NM_144966.6(FREM1):c.*737C>T	Oculotrichoanal syndrome [RCV001167466]	uncertain significance	9	14736659	14736659	Human	1	name
28880876	CV901610	single nucleotide variant	NM_144966.6(FREM1):c.*652A>T	Oculotrichoanal syndrome [RCV001167467]	uncertain significance	9	14736744	14736744	Human	1	name
28880882	CV901611	single nucleotide variant	NM_144966.6(FREM1):c.*616G>A	Oculotrichoanal syndrome [RCV001167468]	likely benign	9	14736780	14736780	Human	1	name
28883012	CV901612	single nucleotide variant	NM_144966.6(FREM1):c.*334A>T	Oculotrichoanal syndrome [RCV001168081]	likely benign	9	14737062	14737062	Human	1	name
28878697	CV901677	single nucleotide variant	NM_144966.7(FREM1):c.-708C>T	Oculotrichoanal syndrome [RCV001166820]	uncertain significance	9	14910887	14910887	Human	1	name
11610775	CV307776	single nucleotide variant	NM_144966.5(FREM1):c.*2461C>A	Oculotrichoanal syndrome [RCV000386263]	likely benign\|uncertain significance	9	14734935	14734935	Human	1	name
11650642	CV307777	single nucleotide variant	NM_144966.5(FREM1):c.*2437A>G	Oculotrichoanal syndrome [RCV000294283]	uncertain significance	9	14734959	14734959	Human	1	name
11608531	CV307778	single nucleotide variant	NM_144966.5(FREM1):c.*2296G>A	Oculotrichoanal syndrome [RCV000356218]	benign\|likely benign	9	14735100	14735100	Human	1	name
11652206	CV307780	single nucleotide variant	NM_144966.5(FREM1):c.*2069G>A	Oculotrichoanal syndrome [RCV000303706]	uncertain significance	9	14735327	14735327	Human	1	name
11606813	CV307785	single nucleotide variant	NM_144966.5(FREM1):c.*1299A>G	Oculotrichoanal syndrome [RCV000335855]	benign\|uncertain significance	9	14736097	14736097	Human	1	name
11603968	CV307789	single nucleotide variant	NM_144966.5(FREM1):c.*1256T>A	Oculotrichoanal syndrome [RCV000305163]\|not provided [RCV004712698]	benign\|likely benign	9	14736140	14736140	Human	1	name
11609262	CV307791	single nucleotide variant	NM_144966.5(FREM1):c.*1031G>T	Oculotrichoanal syndrome [RCV000366146]	uncertain significance	9	14736365	14736365	Human	1	name
11654275	CV312015	single nucleotide variant	NM_144966.5(FREM1):c.*2704A>C	Oculotrichoanal syndrome [RCV000316343]	uncertain significance	9	14734692	14734692	Human	1	name
11609847	CV312016	single nucleotide variant	NM_144966.5(FREM1):c.*2670T>A	Oculotrichoanal syndrome [RCV000373328]	uncertain significance	9	14734726	14734726	Human	1	name
11608169	CV312028	single nucleotide variant	NM_144966.5(FREM1):c.*2405T>G	Oculotrichoanal syndrome [RCV000351608]	likely benign\|uncertain significance	9	14734991	14734991	Human	1	name
11603004	CV312029	single nucleotide variant	NM_144966.5(FREM1):c.*2341A>G	Oculotrichoanal syndrome [RCV000295715]\|not provided [RCV004712690]	benign	9	14735055	14735055	Human	1	name
11608048	CV312034	single nucleotide variant	NM_144966.5(FREM1):c.*2330C>G	Oculotrichoanal syndrome [RCV000350598]\|not provided [RCV004712691]	benign	9	14735066	14735066	Human	1	name
11611431	CV312050	single nucleotide variant	NM_144966.5(FREM1):c.*2324T>A	Oculotrichoanal syndrome [RCV000395011]	likely benign\|uncertain significance	9	14735072	14735072	Human	1	name
11611954	CV312051	single nucleotide variant	NM_144966.5(FREM1):c.*2254A>G	Oculotrichoanal syndrome [RCV000401448]\|not provided [RCV004712693]	benign	9	14735142	14735142	Human	1	name
11603192	CV312052	single nucleotide variant	NM_144966.5(FREM1):c.*2229C>T	Oculotrichoanal syndrome [RCV000297786]	benign\|uncertain significance	9	14735167	14735167	Human	1	name
11608657	CV312062	single nucleotide variant	NM_144966.5(FREM1):c.*1865T>C	Oculotrichoanal syndrome [RCV000358255]\|not provided [RCV004712695]	benign	9	14735531	14735531	Human	1	name
11606151	CV312064	single nucleotide variant	NM_144966.5(FREM1):c.*1788C>G	Oculotrichoanal syndrome [RCV000327891]	uncertain significance	9	14735608	14735608	Human	1	name
11602841	CV312071	single nucleotide variant	NM_144966.5(FREM1):c.*1465G>A	Oculotrichoanal syndrome [RCV000294116]	benign\|likely benign	9	14735931	14735931	Human	1	name
11658364	CV312073	single nucleotide variant	NM_144966.5(FREM1):c.*1394A>T	Oculotrichoanal syndrome [RCV000348564]	uncertain significance	9	14736002	14736002	Human	1	name
11663784	CV312100	single nucleotide variant	NM_144966.5(FREM1):c.*1258G>A	Oculotrichoanal syndrome [RCV000399056]	uncertain significance	9	14736138	14736138	Human	1	name
11611465	CV317697	single nucleotide variant	NM_144966.5(FREM1):c.*2378G>A	Oculotrichoanal syndrome [RCV000395010]\|not provided [RCV004712689]	benign\|likely benign	9	14735018	14735018	Human	1	name
11646159	CV317705	single nucleotide variant	NM_144966.5(FREM1):c.*1772C>T	Oculotrichoanal syndrome [RCV000269458]	uncertain significance	9	14735624	14735624	Human	1	name
11601235	CV317717	single nucleotide variant	NM_144966.5(FREM1):c.*1376G>T	Oculotrichoanal syndrome [RCV000280787]	benign\|uncertain significance	9	14736020	14736020	Human	1	name
11657413	CV317719	single nucleotide variant	NM_144966.5(FREM1):c.*1209C>T	Oculotrichoanal syndrome [RCV000341294]	uncertain significance	9	14736187	14736187	Human	1	name
11600183	CV317723	single nucleotide variant	NM_144966.5(FREM1):c.*1024C>T	Oculotrichoanal syndrome [RCV000271544]	uncertain significance	9	14736372	14736372	Human	1	name
11601167	CV317838	single nucleotide variant	NM_001379081.2(FREM1):c.-9C>G	Oculotrichoanal syndrome [RCV000280241]\|not provided [RCV001653758]	benign\|likely benign	9	14868986	14868986	Human	1	name
11601333	CV318175	single nucleotide variant	NM_144966.5(FREM1):c.*2664A>G	Oculotrichoanal syndrome [RCV000281311]	likely benign\|uncertain significance	9	14734732	14734732	Human	1	name
11603576	CV318188	single nucleotide variant	NM_144966.5(FREM1):c.*2320A>C	Oculotrichoanal syndrome [RCV000301531]\|not provided [RCV004712692]	benign	9	14735076	14735076	Human	1	name
11608959	CV318193	single nucleotide variant	NM_144966.5(FREM1):c.*2207G>A	Oculotrichoanal syndrome [RCV000361852]\|not provided [RCV004712694]	benign\|likely benign	9	14735189	14735189	Human	1	name
11610486	CV318196	single nucleotide variant	NM_144966.5(FREM1):c.*1784A>G	Oculotrichoanal syndrome [RCV000382431]\|not provided [RCV004712696]	benign\|likely benign	9	14735612	14735612	Human	1	name
11606625	CV318200	single nucleotide variant	NM_144966.5(FREM1):c.*1700T>C	Oculotrichoanal syndrome [RCV000333926]\|not provided [RCV004712697]	benign	9	14735696	14735696	Human	1	name
11662660	CV318203	single nucleotide variant	NM_144966.5(FREM1):c.*1558C>G	Oculotrichoanal syndrome [RCV000388368]	uncertain significance	9	14735838	14735838	Human	1	name
11663660	CV318205	single nucleotide variant	NM_144966.5(FREM1):c.*1205T>C	Oculotrichoanal syndrome [RCV000398257]	uncertain significance	9	14736191	14736191	Human	1	name
11603623	CV318209	single nucleotide variant	NM_144966.5(FREM1):c.*1073G>A	Oculotrichoanal syndrome [RCV000302048]\|not provided [RCV004696125]	uncertain significance	9	14736323	14736323	Human	1	name
28889010	CV901596	single nucleotide variant	NM_144966.5(FREM1):c.*2496C>G	Oculotrichoanal syndrome [RCV001169794]	uncertain significance	9	14734900	14734900	Human	1	name
28880632	CV901597	single nucleotide variant	NM_144966.5(FREM1):c.*2313T>C	Oculotrichoanal syndrome [RCV001167394]	likely benign	9	14735083	14735083	Human	1	name
28880636	CV901598	single nucleotide variant	NM_144966.5(FREM1):c.*2230G>C	Oculotrichoanal syndrome [RCV001167395]	uncertain significance	9	14735166	14735166	Human	1	name
28880641	CV901599	single nucleotide variant	NM_144966.5(FREM1):c.*2067C>T	Oculotrichoanal syndrome [RCV001167396]	uncertain significance	9	14735329	14735329	Human	1	name
28882795	CV901600	single nucleotide variant	NM_144966.5(FREM1):c.*1844G>A	Oculotrichoanal syndrome [RCV001168012]	likely benign	9	14735552	14735552	Human	1	name
28882798	CV901601	single nucleotide variant	NM_144966.5(FREM1):c.*1737G>C	Oculotrichoanal syndrome [RCV001168013]	uncertain significance	9	14735659	14735659	Human	1	name
28885473	CV901602	single nucleotide variant	NM_144966.5(FREM1):c.*1663T>C	Oculotrichoanal syndrome [RCV001168785]	uncertain significance	9	14735733	14735733	Human	1	name
28885479	CV901603	single nucleotide variant	NM_144966.5(FREM1):c.*1420T>C	Oculotrichoanal syndrome [RCV001168786]	uncertain significance	9	14735976	14735976	Human	1	name
28875690	CV901604	single nucleotide variant	NM_144966.5(FREM1):c.*1226T>A	Oculotrichoanal syndrome [RCV001165894]	uncertain significance	9	14736170	14736170	Human	1	name
28875694	CV901605	single nucleotide variant	NM_144966.5(FREM1):c.*1215G>A	Oculotrichoanal syndrome [RCV001165895]	uncertain significance	9	14736181	14736181	Human	1	name
28875698	CV901606	single nucleotide variant	NM_144966.5(FREM1):c.*1051C>A	Oculotrichoanal syndrome [RCV001165896]	uncertain significance	9	14736345	14736345	Human	1	name
28875702	CV901607	single nucleotide variant	NM_144966.5(FREM1):c.*1041A>C	Oculotrichoanal syndrome [RCV001165897]	uncertain significance	9	14736355	14736355	Human	1	name
11657212	CV307797	single nucleotide variant	NM_001379081.2(FREM1):c.*55G>T	Oculotrichoanal syndrome [RCV000339751]	uncertain significance	9	14737341	14737341	Human	1	name
11611500	CV312106	single nucleotide variant	NM_001379081.2(FREM1):c.*10A>T	Oculotrichoanal syndrome [RCV000396007]	uncertain significance	9	14737386	14737386	Human	1	name
11599614	CV317702	deletion	NM_144966.5(FREM1):c.*2125delA	Oculotrichoanal syndrome [RCV000267241]	uncertain significance	9	14735271	14735271	Human	1	name
11635612	CV317706	duplication	NM_144966.5(FREM1):c.*1388dupT	Oculotrichoanal syndrome [RCV000375185]	likely benign	9	14736007	14736008	Human	1	name
11657553	CV317841	single nucleotide variant	NM_001379081.2(FREM1):c.-60A>T	Oculotrichoanal syndrome [RCV000342318]	uncertain significance	9	14869037	14869037	Human	1	name
28886987	CV901670	single nucleotide variant	NM_001379081.2(FREM1):c.-12G>C	Oculotrichoanal syndrome [RCV001169220]\|Oculotrichoanal syndrome [RCV004726912]	likely benign\|uncertain significance	9	14868989	14868989	Human	2	name
28886992	CV901671	single nucleotide variant	NM_001379081.2(FREM1):c.-88T>G	Oculotrichoanal syndrome [RCV001169221]\|not provided [RCV004695111]	uncertain significance	9	14869065	14869065	Human	1	name
11610245	CV307794	single nucleotide variant	NM_001379081.2(FREM1):c.*148A>G	Oculotrichoanal syndrome [RCV000379207]\|not provided [RCV001692071]	benign\|likely benign	9	14737248	14737248	Human	1	name
11601712	CV307796	deletion	NM_001379081.2(FREM1):c.*139del	Oculotrichoanal syndrome [RCV000284783]\|not provided [RCV004696126]	uncertain significance	9	14737257	14737257	Human	1	name
11604585	CV307872	single nucleotide variant	NM_001379081.2(FREM1):c.-204T>G	Oculotrichoanal syndrome [RCV000310746]\|not provided [RCV001692074]	benign\|likely benign	9	14869181	14869181	Human	1	name
11607399	CV317738	single nucleotide variant	NM_001379081.2(FREM1):c.*229C>T	Oculotrichoanal syndrome [RCV000343205]	uncertain significance	9	14737167	14737167	Human	1	name
11603704	CV317843	single nucleotide variant	NM_001379081.2(FREM1):c.-149A>G	Oculotrichoanal syndrome [RCV000302450]\|not provided [RCV004696127]	uncertain significance	9	14869126	14869126	Human	1	name
11611413	CV317845	single nucleotide variant	NM_001379081.2(FREM1):c.-176A>T	Oculotrichoanal syndrome [RCV000394826]	uncertain significance	9	14869153	14869153	Human	1	name
11659981	CV317846	single nucleotide variant	NM_001379081.2(FREM1):c.-285A>G	Oculotrichoanal syndrome [RCV000363148]	uncertain significance	9	14909931	14909931	Human	1	name
11609658	CV317847	single nucleotide variant	NM_001379081.2(FREM1):c.-587G>T	Oculotrichoanal syndrome [RCV000370920]	uncertain significance	9	14910233	14910233	Human	1	name
11611436	CV318337	single nucleotide variant	NM_001379081.2(FREM1):c.-135G>C	Oculotrichoanal syndrome [RCV000394823]\|not provided [RCV001675885]	benign	9	14869112	14869112	Human	1	name
11608782	CV318345	single nucleotide variant	NM_001379081.2(FREM1):c.-166G>A	Oculotrichoanal syndrome [RCV000359786]	uncertain significance	9	14869143	14869143	Human	1	name
11600046	CV318348	single nucleotide variant	NM_001379081.2(FREM1):c.-396C>T	Oculotrichoanal syndrome [RCV000270451]	likely benign\|uncertain significance	9	14910042	14910042	Human	1	name
11606504	CV318350	single nucleotide variant	NM_001379081.2(FREM1):c.-582G>A	Oculotrichoanal syndrome [RCV000332525]	uncertain significance	9	14910228	14910228	Human	1	name
28883015	CV901613	single nucleotide variant	NM_001379081.2(FREM1):c.*240A>T	Oculotrichoanal syndrome [RCV001168082]	uncertain significance	9	14737156	14737156	Human	1	name
28883018	CV901614	single nucleotide variant	NM_001379081.2(FREM1):c.*217T>G	Oculotrichoanal syndrome [RCV001168083]	uncertain significance	9	14737179	14737179	Human	1	name
28885685	CV901615	single nucleotide variant	NM_001379081.2(FREM1):c.*202G>C	Oculotrichoanal syndrome [RCV001168845]	likely benign	9	14737194	14737194	Human	1	name
28876974	CV901672	single nucleotide variant	NM_001379081.2(FREM1):c.-194G>A	Oculotrichoanal syndrome [RCV001166305]	uncertain significance	9	14869171	14869171	Human	1	name
28876980	CV901673	single nucleotide variant	NM_001379081.2(FREM1):c.-265T>C	Oculotrichoanal syndrome [RCV001166306]	uncertain significance	9	14869242	14869242	Human	1	name
28876984	CV901674	single nucleotide variant	NM_001379081.2(FREM1):c.-395C>T	Oculotrichoanal syndrome [RCV001166307]	uncertain significance	9	14910041	14910041	Human	1	name
28876989	CV901675	single nucleotide variant	NM_001379081.2(FREM1):c.-476G>T	Oculotrichoanal syndrome [RCV001166308]	uncertain significance	9	14910122	14910122	Human	1	name
28877085	CV901676	single nucleotide variant	NM_001379081.2(FREM1):c.-491C>T	Oculotrichoanal syndrome [RCV001166309]	uncertain significance	9	14910137	14910137	Human	1	name
8651136	CV127711	single nucleotide variant	NM_144966.5(FREM1):c.5060-135T>C	Lung cancer [RCV000108198]	uncertain significance	9	14770003	14770003	Human		name
151873425	CV1359630	single nucleotide variant	NM_001379081.2(FREM1):c.829-1G>C	not provided [RCV002019235]	likely pathogenic	9	14851608	14851608	Human		name
152065914	CV1601550	single nucleotide variant	NM_001379081.2(FREM1):c.329+7G>T	not provided [RCV002168655]	likely benign	9	14863802	14863802	Human		name
156006684	CV2064890	single nucleotide variant	NM_001379081.2(FREM1):c.234+1G>T	not provided [RCV002843661]	likely pathogenic	9	14868743	14868743	Human		name
401910947	CV2828780	single nucleotide variant	NM_001379081.2(FREM1):c.828+5A>C	not provided [RCV003425617]	uncertain significance	9	14857548	14857548	Human		name
405279017	CV3217316	single nucleotide variant	NM_001379081.2(FREM1):c.329+6C>T	FREM1-related disorder [RCV003976758]	likely benign	9	14863803	14863803	Human		name , trait , alternate_id
597691524	CV3723059	single nucleotide variant	NM_001379081.2(FREM1):c.632-7A>C	Oculotrichoanal syndrome [RCV005046387]	uncertain significance	9	14857756	14857756	Human	3	name
597691533	CV3723060	single nucleotide variant	NM_001379081.2(FREM1):c.631+1G>A	Oculotrichoanal syndrome [RCV005046388]	uncertain significance	9	14859182	14859182	Human	3	name
597691637	CV3723072	single nucleotide variant	NM_001379081.2(FREM1):c.329+5G>A	Oculotrichoanal syndrome [RCV005046397]	uncertain significance	9	14863804	14863804	Human	3	name
28878531	CV903369	single nucleotide variant	NM_001379081.2(FREM1):c.329+7G>A	FREM1-related disorder [RCV003898161]\|Oculotrichoanal syndrome [RCV001166772]\|not provided [RCV003546672]	likely benign\|uncertain significance	9	14863802	14863802	Human	1	name , alternate_id
126726023	CV1017179	single nucleotide variant	NM_001379081.2(FREM1):c.3694+6G>C	Trigonocephaly 2 [RCV001331738]	uncertain significance	9	14801646	14801646	Human	1	name
127244786	CV1055811	single nucleotide variant	NM_001379081.2(FREM1):c.2641-1G>T	not provided [RCV001377307]	likely pathogenic	9	14813065	14813065	Human		name
150337455	CV1165909	single nucleotide variant	NM_001379081.2(FREM1):c.3274+4A>G	BNAR syndrome [RCV005255683]\|Oculotrichoanal syndrome [RCV004796637]\|not provided [RCV001532635]	likely pathogenic\|uncertain significance	9	14806657	14806657	Human	3	name
150442022	CV1224635	single nucleotide variant	NM_001379081.2(FREM1):c.828+33G>C	Oculotrichoanal syndrome [RCV001703135]\|not provided [RCV001620466]	benign	9	14857520	14857520	Human	1	name
150488147	CV1265204	single nucleotide variant	NM_001379081.2(FREM1):c.829-98C>T	not provided [RCV001687240]	benign	9	14851705	14851705	Human		name
150461549	CV1275968	single nucleotide variant	NM_001379081.2(FREM1):c.234+89T>A	not provided [RCV001709906]	benign	9	14868655	14868655	Human		name
150544265	CV1313234	single nucleotide variant	NM_001379081.2(FREM1):c.4178-1G>A	not provided [RCV001783313]	pathogenic	9	14784635	14784635	Human		name
151761853	CV1433740	single nucleotide variant	NM_001379081.2(FREM1):c.3694+1G>T	not provided [RCV002024463]	likely pathogenic	9	14801651	14801651	Human		name
151847151	CV1439619	single nucleotide variant	NM_001379081.2(FREM1):c.6010-3A>G	Oculotrichoanal syndrome [RCV002486673]\|not provided [RCV002016081]	uncertain significance	9	14747054	14747054	Human	3	name
151804259	CV1444140	single nucleotide variant	NM_001379081.2(FREM1):c.5335-6C>G	not provided [RCV001917992]	likely benign\|uncertain significance	9	14756452	14756452	Human		name
151828981	CV1465463	single nucleotide variant	NM_001379081.2(FREM1):c.1393+6T>C	not provided [RCV002014125]	uncertain significance	9	14845954	14845954	Human		name
151871479	CV1477103	single nucleotide variant	NM_001379081.2(FREM1):c.6341-1G>A	not provided [RCV001906545]	uncertain significance	9	14737596	14737596	Human		name
152111977	CV1550511	single nucleotide variant	NM_001379081.2(FREM1):c.329+12G>A	not provided [RCV002153170]	likely benign	9	14863797	14863797	Human		name
152135541	CV1642352	single nucleotide variant	NM_001379081.2(FREM1):c.2893+8G>A	not provided [RCV002119653]	likely benign	9	14812804	14812804	Human		name
152052938	CV1665114	single nucleotide variant	NM_001379081.2(FREM1):c.6340+9C>T	not provided [RCV002089384]	likely benign	9	14740140	14740140	Human		name
156408036	CV1911433	single nucleotide variant	NM_001379081.2(FREM1):c.2893+3A>C	not provided [RCV002607095]	uncertain significance	9	14812809	14812809	Human		name
156204402	CV1913059	single nucleotide variant	NM_001379081.2(FREM1):c.6139-2A>G	Oculotrichoanal syndrome [RCV005045326]\|not provided [RCV002595823]	likely pathogenic	9	14746470	14746470	Human	3	name
156063258	CV1931161	single nucleotide variant	NM_001379081.2(FREM1):c.2079-4T>G	FREM1-related disorder [RCV003898906]\|not provided [RCV002638357]	likely benign	9	14824119	14824119	Human		name , alternate_id
156394765	CV1958812	single nucleotide variant	NM_001379081.2(FREM1):c.5797-7A>T	not provided [RCV002584259]	likely benign	9	14747735	14747735	Human		name
156334683	CV1966767	single nucleotide variant	NM_001379081.2(FREM1):c.632-14G>A	not provided [RCV002600971]	likely benign	9	14857763	14857763	Human		name
156165749	CV1971484	single nucleotide variant	NM_001379081.2(FREM1):c.632-11G>A	not provided [RCV002594618]	likely benign	9	14857760	14857760	Human		name
156058199	CV1974671	single nucleotide variant	NM_001379081.2(FREM1):c.5335-8C>A	FREM1-related disorder [RCV003903729]\|not provided [RCV002590885]	likely benign	9	14756454	14756454	Human		name , alternate_id
156388217	CV1989860	single nucleotide variant	NM_001379081.2(FREM1):c.1262-3T>C	not provided [RCV002604443]	uncertain significance	9	14846094	14846094	Human		name
156390755	CV1991206	single nucleotide variant	NM_001379081.2(FREM1):c.5205-5C>A	not provided [RCV002634964]	likely benign	9	14759906	14759906	Human		name
156137030	CV2006431	single nucleotide variant	NM_001379081.2(FREM1):c.329+11C>T	not provided [RCV002663428]	likely benign	9	14863798	14863798	Human		name
156302261	CV2013523	single nucleotide variant	NM_001379081.2(FREM1):c.234+12C>T	not provided [RCV002716114]	likely benign	9	14868732	14868732	Human		name
155950931	CV2076375	single nucleotide variant	NM_001379081.2(FREM1):c.5205-1G>C	not provided [RCV002862344]	likely pathogenic	9	14759902	14759902	Human		name
155914363	CV2091619	single nucleotide variant	NM_001379081.2(FREM1):c.829-18T>C	not provided [RCV002902986]	likely benign	9	14851625	14851625	Human		name
156340942	CV2179814	single nucleotide variant	NM_001379081.2(FREM1):c.3275-3T>C	not provided [RCV003030281]	uncertain significance	9	14805155	14805155	Human		name
243064774	CV2410229	single nucleotide variant	NM_001379081.2(FREM1):c.4443-3C>G	not provided [RCV003143412]	uncertain significance	9	14776206	14776206	Human		name
11545229	CV253495	single nucleotide variant	NM_001379081.2(FREM1):c.3089-4G>T	Oculotrichoanal syndrome [RCV000276927]\|not provided [RCV001668605]\|not specified [RCV000244850]	benign	9	14806850	14806850	Human	1	name
11551278	CV253498	single nucleotide variant	NM_001379081.2(FREM1):c.829-12A>G	Oculotrichoanal syndrome [RCV000402313]\|not provided [RCV001689939]\|not specified [RCV000252831]	benign	9	14851619	14851619	Human	1	name
11638274	CV270661	single nucleotide variant	NM_001379081.2(FREM1):c.3471+9C>T	FREM1-related disorder [RCV003909984]\|Oculotrichoanal syndrome [RCV001168302]\|not provided [RCV000300422]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	14804947	14804947	Human	1	name , alternate_id
402522129	CV2940231	single nucleotide variant	NM_001379081.2(FREM1):c.1262-4A>G	not provided [RCV003663387]	likely benign	9	14846095	14846095	Human		name
405063850	CV3020696	single nucleotide variant	NM_001379081.2(FREM1):c.2078+1G>T	not provided [RCV003697885]	likely pathogenic	9	14824795	14824795	Human		name
405197991	CV3032726	single nucleotide variant	NM_001379081.2(FREM1):c.3840-2A>G	Oculotrichoanal syndrome [RCV005047795]\|not provided [RCV003707145]	likely pathogenic	9	14792886	14792886	Human	3	name
405137543	CV3048466	single nucleotide variant	NM_001379081.2(FREM1):c.5335-7T>C	not provided [RCV003725297]	likely benign	9	14756453	14756453	Human		name
405224279	CV3058091	single nucleotide variant	NM_001379081.2(FREM1):c.3981+7G>A	not provided [RCV003733781]	likely benign	9	14792736	14792736	Human		name
405184847	CV3061899	single nucleotide variant	NM_001379081.2(FREM1):c.234+10A>T	not provided [RCV003729165]	likely benign	9	14868734	14868734	Human		name
11609499	CV307802	single nucleotide variant	NM_001379081.2(FREM1):c.6255-4T>G	Oculotrichoanal syndrome [RCV000369163]\|not provided [RCV000963923]	benign\|likely benign	9	14740238	14740238	Human	1	name
11611694	CV307803	single nucleotide variant	NM_001379081.2(FREM1):c.6139-4T>C	Oculotrichoanal syndrome [RCV000398791]\|not provided [RCV000963924]	benign\|uncertain significance	9	14746472	14746472	Human	1	name
11611556	CV307834	single nucleotide variant	NM_001379081.2(FREM1):c.2337+3A>G	Oculotrichoanal syndrome [RCV000396911]	uncertain significance	9	14823157	14823157	Human	1	name
11654351	CV307836	single nucleotide variant	NM_001379081.2(FREM1):c.2079-7T>C	Oculotrichoanal syndrome [RCV000317024]	uncertain significance	9	14824122	14824122	Human	1	name
405006745	CV3117543	single nucleotide variant	NM_001379081.2(FREM1):c.828+15T>G	not provided [RCV003828598]	likely benign	9	14857538	14857538	Human		name
405112940	CV3118685	single nucleotide variant	NM_001379081.2(FREM1):c.330-18G>T	not provided [RCV003813913]	likely benign	9	14859502	14859502	Human		name
11601131	CV312142	single nucleotide variant	NM_001379081.2(FREM1):c.3840-3C>T	Oculotrichoanal syndrome [RCV000279938]	uncertain significance	9	14792887	14792887	Human	1	name
11661465	CV312148	single nucleotide variant	NM_001379081.2(FREM1):c.2640+4G>A	Oculotrichoanal syndrome [RCV000376911]	uncertain significance	9	14816774	14816774	Human	1	name
404988360	CV3131805	single nucleotide variant	NM_001379081.2(FREM1):c.828+13G>A	not provided [RCV003826933]	likely benign	9	14857540	14857540	Human		name
11635278	CV317742	duplication	NM_001379081.2(FREM1):c.5335-8dup	Oculotrichoanal syndrome [RCV000329084]\|not provided [RCV000879232]	benign\|likely benign	9	14756453	14756454	Human	1	name
11603371	CV317746	single nucleotide variant	NM_001379081.2(FREM1):c.4857+8T>C	Oculotrichoanal syndrome [RCV000299508]\|not provided [RCV001653756]\|not specified [RCV001528323]	benign	9	14775781	14775781	Human	1	name
11604575	CV318266	single nucleotide variant	NM_001379081.2(FREM1):c.6139-4T>A	Oculotrichoanal syndrome [RCV000310930]\|not provided [RCV000957135]	benign\|uncertain significance	9	14746472	14746472	Human	1	name
405279166	CV3217396	single nucleotide variant	NM_001379081.2(FREM1):c.2338-5T>G	FREM1-related disorder [RCV003976821]	likely benign	9	14819447	14819447	Human		name , trait , alternate_id
405270895	CV3218813	single nucleotide variant	NM_001379081.2(FREM1):c.6009+4T>G	FREM1-related disorder [RCV003971576]	likely benign	9	14747260	14747260	Human		name , trait , alternate_id
405701477	CV3225992	single nucleotide variant	NM_001379081.2(FREM1):c.5205-2A>G	Oculotrichoanal syndrome [RCV003989434]\|not provided [RCV004588529]	likely pathogenic\|uncertain significance	9	14759903	14759903	Human	1	name
408379020	CV3515288	single nucleotide variant	NM_001379081.2(FREM1):c.5205-1G>A	FREM1-related disorder [RCV004752550]\|Oculotrichoanal syndrome [RCV005358141]	likely pathogenic	9	14759902	14759902	Human	3	name , alternate_id
597691303	CV3723028	single nucleotide variant	NM_001379081.2(FREM1):c.1739-4A>G	Oculotrichoanal syndrome [RCV005046367]	uncertain significance	9	14841593	14841593	Human	3	name
597715075	CV3723042	single nucleotide variant	NM_001379081.2(FREM1):c.1261+1G>T	Oculotrichoanal syndrome [RCV005049079]	likely pathogenic	9	14848664	14848664	Human	3	name
597689843	CV3726296	single nucleotide variant	NM_001379081.2(FREM1):c.6139-2A>C	Oculotrichoanal syndrome [RCV005046201]	likely pathogenic	9	14746470	14746470	Human	3	name
597689715	CV3726307	single nucleotide variant	NM_001379081.2(FREM1):c.5845-2A>C	Oculotrichoanal syndrome [RCV005046212]	likely pathogenic	9	14747430	14747430	Human	3	name
597689704	CV3726308	single nucleotide variant	NM_001379081.2(FREM1):c.5844+3A>C	Oculotrichoanal syndrome [RCV005046213]	uncertain significance	9	14747678	14747678	Human	3	name
597689547	CV3726336	single nucleotide variant	NM_001379081.2(FREM1):c.5059+6G>A	Oculotrichoanal syndrome [RCV005046233]	uncertain significance	9	14770599	14770599	Human	3	name
597689650	CV3726348	single nucleotide variant	NM_001379081.2(FREM1):c.4857+1G>A	Oculotrichoanal syndrome [RCV005046242]	likely pathogenic	9	14775788	14775788	Human	3	name
597690091	CV3726368	single nucleotide variant	NM_001379081.2(FREM1):c.4178-5T>G	Oculotrichoanal syndrome [RCV005046257]	uncertain significance	9	14784639	14784639	Human	3	name
597690102	CV3726369	duplication	NM_001379081.2(FREM1):c.4178-8dup	Oculotrichoanal syndrome [RCV005046258]	uncertain significance	9	14784641	14784642	Human	3	name
597690113	CV3726370	single nucleotide variant	NM_001379081.2(FREM1):c.4177+4A>T	Oculotrichoanal syndrome [RCV005046259]	uncertain significance	9	14788915	14788915	Human	3	name
597690176	CV3726377	single nucleotide variant	NM_001379081.2(FREM1):c.3981+9C>G	Oculotrichoanal syndrome [RCV005046265]	uncertain significance	9	14792734	14792734	Human	3	name
597690458	CV3726409	single nucleotide variant	NM_001379081.2(FREM1):c.3472-9C>G	Oculotrichoanal syndrome [RCV005046292]	uncertain significance	9	14801883	14801883	Human	3	name
597690570	CV3726423	single nucleotide variant	NM_001379081.2(FREM1):c.3274+1G>A	Oculotrichoanal syndrome [RCV005046302]	likely pathogenic	9	14806660	14806660	Human	3	name
597690639	CV3726429	duplication	NM_001379081.2(FREM1):c.3089-3dup	Oculotrichoanal syndrome [RCV005046308]	uncertain significance	9	14806848	14806849	Human	3	name
597691109	CV3726482	single nucleotide variant	NM_001379081.2(FREM1):c.2169+9A>T	Oculotrichoanal syndrome [RCV005046350]	uncertain significance	9	14824016	14824016	Human	3	name
597691151	CV3726486	single nucleotide variant	NM_001379081.2(FREM1):c.2079-1G>T	Oculotrichoanal syndrome [RCV005046354]	likely pathogenic	9	14824116	14824116	Human	3	name
597831498	CV3735436	single nucleotide variant	NM_001379081.2(FREM1):c.2079-8C>G	BNAR syndrome [RCV005055418]\|not provided [RCV005063369]	likely benign\|uncertain significance	9	14824123	14824123	Human	1	name
597846808	CV3736655	single nucleotide variant	NM_001379081.2(FREM1):c.1881+9C>T	not provided [RCV005065814]	likely benign	9	14841438	14841438	Human		name
597931042	CV3745913	single nucleotide variant	NM_001379081.2(FREM1):c.4858-9A>G	not provided [RCV005075899]	likely benign	9	14770815	14770815	Human		name
597970790	CV3750159	single nucleotide variant	NM_001379081.2(FREM1):c.631+19C>T	not provided [RCV005084100]	likely benign	9	14859164	14859164	Human		name
597972873	CV3790791	single nucleotide variant	NM_001379081.2(FREM1):c.5407+6T>A	not provided [RCV005143006]	uncertain significance	9	14756368	14756368	Human		name
597960060	CV3797942	single nucleotide variant	NM_001379081.2(FREM1):c.1739-4A>T	not provided [RCV005138416]	likely benign	9	14841593	14841593	Human		name
597862665	CV3822697	single nucleotide variant	NM_001379081.2(FREM1):c.1153-2A>G	not provided [RCV005175229]	likely pathogenic	9	14848775	14848775	Human		name
597941800	CV3837165	single nucleotide variant	NM_001379081.2(FREM1):c.3839+9C>T	not provided [RCV005187996]	likely benign	9	14797489	14797489	Human		name
12905864	CV413787	single nucleotide variant	NM_001379081.2(FREM1):c.5205-1G>T	Oculotrichoanal syndrome [RCV005044734]\|not provided [RCV000488096]	likely pathogenic	9	14759902	14759902	Human	3	name
15178318	CV730630	single nucleotide variant	NM_001379081.2(FREM1):c.5205-4A>G	FREM1-related disorder [RCV003955892]\|not provided [RCV000885034]	likely benign	9	14759905	14759905	Human		name , alternate_id
15161839	CV744368	single nucleotide variant	NM_001379081.2(FREM1):c.4442+3G>A	FREM1-related disorder [RCV003912903]\|Oculotrichoanal syndrome [RCV001168976]\|not provided [RCV000903428]	likely benign\|conflicting interpretations of pathogenicity	9	14784367	14784367	Human	1	name , alternate_id
28885927	CV903363	single nucleotide variant	NM_001379081.2(FREM1):c.5204+8C>G	BNAR syndrome [RCV005367736]\|Oculotrichoanal syndrome [RCV001168919]\|not provided [RCV002557459]	likely benign\|uncertain significance	9	14769716	14769716	Human	2	name
28883769	CV903364	single nucleotide variant	NM_001379081.2(FREM1):c.3472-3C>A	Oculotrichoanal syndrome [RCV001168301]	uncertain significance	9	14801877	14801877	Human	1	name
28878009	CV903365	single nucleotide variant	NM_001379081.2(FREM1):c.2640+7A>G	Oculotrichoanal syndrome [RCV001166618]\|not provided [RCV002068019]	likely benign\|uncertain significance	9	14816771	14816771	Human	1	name
28878014	CV903366	single nucleotide variant	NM_001379081.2(FREM1):c.2640+3G>A	Oculotrichoanal syndrome [RCV001166619]	uncertain significance	9	14816775	14816775	Human	1	name
28878527	CV903368	single nucleotide variant	NM_001379081.2(FREM1):c.329+10A>C	Oculotrichoanal syndrome [RCV001166771]\|not provided [RCV002559598]	likely benign\|uncertain significance	9	14863799	14863799	Human	1	name
150335207	CV1171964	single nucleotide variant	NM_001379081.2(FREM1):c.4177+31A>G	not provided [RCV001540457]	benign	9	14788888	14788888	Human		name
150513881	CV1210747	single nucleotide variant	NM_001379081.2(FREM1):c.829-177A>G	not provided [RCV001598788]	benign	9	14851784	14851784	Human		name
150513122	CV1211824	duplication	NM_001379081.2(FREM1):c.5407+45dup	not provided [RCV001598345]	benign	9	14756320	14756321	Human		name
150504185	CV1212632	single nucleotide variant	NM_001379081.2(FREM1):c.5334+45T>C	not provided [RCV001595507]	benign	9	14759727	14759727	Human		name
150441889	CV1214648	single nucleotide variant	NM_001379081.2(FREM1):c.1262-33G>C	Oculotrichoanal syndrome [RCV001702930]\|not provided [RCV001613641]	benign	9	14846124	14846124	Human	1	name
150482256	CV1221023	single nucleotide variant	NM_001379081.2(FREM1):c.5205-41A>G	not provided [RCV001617108]	benign	9	14759942	14759942	Human		name
150507977	CV1227021	single nucleotide variant	NM_001379081.2(FREM1):c.2170-82A>G	not provided [RCV001636094]	benign	9	14823409	14823409	Human		name
150516852	CV1227291	single nucleotide variant	NM_001379081.2(FREM1):c.2640+64A>G	not provided [RCV001639391]	benign	9	14816714	14816714	Human		name
150511233	CV1229397	single nucleotide variant	NM_001379081.2(FREM1):c.5059+23C>T	not provided [RCV001637326]	benign	9	14770582	14770582	Human		name
150508122	CV1229559	single nucleotide variant	NM_001379081.2(FREM1):c.6340+86T>C	not provided [RCV001636137]	benign	9	14740063	14740063	Human		name
150435500	CV1233869	single nucleotide variant	NM_001379081.2(FREM1):c.5059+82C>T	not provided [RCV001643996]	benign	9	14770523	14770523	Human		name
150435619	CV1233908	single nucleotide variant	NM_001379081.2(FREM1):c.6255-68T>C	not provided [RCV001644035]	benign	9	14740302	14740302	Human		name
150498648	CV1235601	single nucleotide variant	NM_001379081.2(FREM1):c.4442+56G>A	not provided [RCV001656284]	benign	9	14784314	14784314	Human		name
150472164	CV1236294	single nucleotide variant	NM_001379081.2(FREM1):c.4857+58T>C	not provided [RCV001651379]	benign	9	14775731	14775731	Human		name
150492259	CV1238139	single nucleotide variant	NM_001379081.2(FREM1):c.2640+91A>C	not provided [RCV001654985]	benign	9	14816687	14816687	Human		name
150430499	CV1243335	single nucleotide variant	NM_001379081.2(FREM1):c.5407+45T>G	not provided [RCV001662952]	benign	9	14756329	14756329	Human		name
150438420	CV1244613	single nucleotide variant	NM_001379081.2(FREM1):c.6341-23T>C	Oculotrichoanal syndrome [RCV001703041]\|not provided [RCV001658862]	benign	9	14737618	14737618	Human	1	name
150483987	CV1247045	single nucleotide variant	NM_001379081.2(FREM1):c.1881+58G>C	not provided [RCV001673541]	benign	9	14841389	14841389	Human		name
150439028	CV1247664	single nucleotide variant	NM_001379081.2(FREM1):c.6254+90A>C	not provided [RCV001666031]	benign	9	14746263	14746263	Human		name
150436283	CV1249670	single nucleotide variant	NM_001379081.2(FREM1):c.5335-39T>C	not provided [RCV001665584]	benign	9	14756485	14756485	Human		name
150489360	CV1250541	single nucleotide variant	NM_001379081.2(FREM1):c.6254+45A>T	not provided [RCV001674504]	benign	9	14746308	14746308	Human		name
150466031	CV1255672	single nucleotide variant	NM_001379081.2(FREM1):c.4178-33T>C	not provided [RCV001670306]	benign	9	14784667	14784667	Human		name
150507140	CV1256857	single nucleotide variant	NM_001379081.2(FREM1):c.3089-58C>T	not provided [RCV001678360]	benign	9	14806904	14806904	Human		name
150472219	CV1259257	single nucleotide variant	NM_001379081.2(FREM1):c.6010-84A>G	not provided [RCV001684503]	benign	9	14747135	14747135	Human		name
150450062	CV1260908	single nucleotide variant	NM_001379081.2(FREM1):c.1262-61T>C	not provided [RCV001680577]	benign	9	14846152	14846152	Human		name
150485251	CV1273788	single nucleotide variant	NM_001379081.2(FREM1):c.4858-21A>G	not provided [RCV001698684]	benign	9	14770827	14770827	Human		name
150464620	CV1276435	single nucleotide variant	NM_001379081.2(FREM1):c.1739-46T>C	not provided [RCV001710381]	benign	9	14841635	14841635	Human		name
150452765	CV1276768	single nucleotide variant	NM_001379081.2(FREM1):c.1738+47A>G	not provided [RCV001708558]	benign	9	14842269	14842269	Human		name
150456362	CV1278489	single nucleotide variant	NM_001379081.2(FREM1):c.2170-99G>A	not provided [RCV001709104]	benign	9	14823426	14823426	Human		name
150473520	CV1281507	single nucleotide variant	NM_001379081.2(FREM1):c.234+204T>C	not provided [RCV001713543]	benign	9	14868540	14868540	Human		name
150509449	CV1284540	single nucleotide variant	NM_001379081.2(FREM1):c.6138+75C>T	not provided [RCV001720648]	benign	9	14746848	14746848	Human		name
151887241	CV1496191	single nucleotide variant	NM_001379081.2(FREM1):c.2170-12C>G	not provided [RCV001887723]	uncertain significance	9	14823339	14823339	Human		name
152168076	CV1524694	single nucleotide variant	NM_001379081.2(FREM1):c.1882-14C>G	not provided [RCV002182328]	likely benign	9	14825006	14825006	Human		name
152149604	CV1535903	single nucleotide variant	NM_001379081.2(FREM1):c.2640+16C>G	not provided [RCV002157971]	likely benign	9	14816762	14816762	Human		name
152103459	CV1569488	single nucleotide variant	NM_001379081.2(FREM1):c.3472-20T>C	Oculotrichoanal syndrome [RCV002499990]\|not provided [RCV002115648]	benign\|likely benign	9	14801894	14801894	Human	3	name
152129975	CV1630874	deletion	NM_001379081.2(FREM1):c.5335-11del	Oculotrichoanal syndrome [RCV002494409]\|not provided [RCV002118956]	benign\|likely benign	9	14756457	14756457	Human	3	name
152130466	CV1630969	single nucleotide variant	NM_001379081.2(FREM1):c.1739-17T>C	not provided [RCV002119021]	benign	9	14841606	14841606	Human		name
152129655	CV1650620	single nucleotide variant	NM_001379081.2(FREM1):c.2337+19A>G	Oculotrichoanal syndrome [RCV002494408]\|not provided [RCV002118911]	benign\|likely benign	9	14823141	14823141	Human	3	name
10048581	CV193798	duplication	NM_001379081.2(FREM1):c.5335-11dup	Oculotrichoanal syndrome [RCV000383645]\|not provided [RCV001534799]\|not specified [RCV000177480]	benign\|likely benign	9	14756456	14756457	Human	1	name
156234266	CV1952706	single nucleotide variant	NM_001379081.2(FREM1):c.2337+17A>G	not provided [RCV002575992]	likely benign	9	14823143	14823143	Human		name
156239452	CV1952933	single nucleotide variant	NM_001379081.2(FREM1):c.3274+15C>T	not provided [RCV002576168]	benign	9	14806646	14806646	Human		name
156085972	CV1953177	single nucleotide variant	NM_001379081.2(FREM1):c.6010-11C>T	not provided [RCV002570062]	likely benign	9	14747062	14747062	Human		name
156158013	CV1954561	single nucleotide variant	NM_001379081.2(FREM1):c.4858-17C>T	not provided [RCV002573121]	likely benign	9	14770823	14770823	Human		name
156415409	CV1958397	single nucleotide variant	NM_001379081.2(FREM1):c.6139-15A>G	not provided [RCV002589152]	likely benign	9	14746483	14746483	Human		name
156127865	CV1959618	deletion	NM_001379081.2(FREM1):c.2547-15del	not provided [RCV002572114]	likely benign	9	14816886	14816886	Human		name
156356852	CV1962475	single nucleotide variant	NM_001379081.2(FREM1):c.5796+19T>C	not provided [RCV002581450]	likely benign	9	14748382	14748382	Human		name
156109097	CV1964725	single nucleotide variant	NM_001379081.2(FREM1):c.6138+14T>C	not provided [RCV002592704]	likely benign	9	14746909	14746909	Human		name
156157595	CV1967710	single nucleotide variant	NM_001379081.2(FREM1):c.5059+18C>G	not provided [RCV002594352]	likely benign	9	14770587	14770587	Human		name
156412852	CV1968848	single nucleotide variant	NM_001379081.2(FREM1):c.2337+18T>C	not provided [RCV002608661]	likely benign	9	14823142	14823142	Human		name
156326463	CV1980638	single nucleotide variant	NM_001379081.2(FREM1):c.6138+13C>G	not provided [RCV002630681]	uncertain significance	9	14746910	14746910	Human		name
156012122	CV1988213	single nucleotide variant	NM_001379081.2(FREM1):c.4177+11G>A	not provided [RCV002618958]	likely benign	9	14788908	14788908	Human		name
155919541	CV1991106	deletion	NM_001379081.2(FREM1):c.2078+11del	not provided [RCV002614484]	benign	9	14824785	14824785	Human		name
155962051	CV2023746	single nucleotide variant	NM_001379081.2(FREM1):c.2640+11A>C	not provided [RCV002731222]	likely benign	9	14816767	14816767	Human		name
156371213	CV2048862	single nucleotide variant	NM_001379081.2(FREM1):c.3839+11T>G	not provided [RCV002814294]	likely benign	9	14797487	14797487	Human		name
156298653	CV2069785	single nucleotide variant	NM_001379081.2(FREM1):c.2894-11G>T	not provided [RCV002833515]	likely benign	9	14808145	14808145	Human		name
156261320	CV2143258	single nucleotide variant	NM_001379081.2(FREM1):c.3840-10C>G	not provided [RCV003008934]	benign	9	14792894	14792894	Human		name
402522906	CV2940310	single nucleotide variant	NM_001379081.2(FREM1):c.1393+17G>T	not provided [RCV003663441]	likely benign	9	14845943	14845943	Human		name
405011056	CV2987247	single nucleotide variant	NM_001379081.2(FREM1):c.4178-17C>A	not provided [RCV003693919]	likely benign	9	14784651	14784651	Human		name
404977601	CV3012095	deletion	NM_001379081.2(FREM1):c.5408-17del	not provided [RCV003690656]	benign	9	14750293	14750293	Human		name
405191021	CV3118077	single nucleotide variant	NM_001379081.2(FREM1):c.6138+15G>A	not provided [RCV003820987]	likely benign	9	14746908	14746908	Human		name
11607428	CV312147	single nucleotide variant	NM_001379081.2(FREM1):c.2641-10C>T	Oculotrichoanal syndrome [RCV000343516]\|not provided [RCV002058789]	benign\|likely benign	9	14813074	14813074	Human	1	name
405117646	CV3130983	single nucleotide variant	NM_001379081.2(FREM1):c.3471+18A>G	not provided [RCV003837039]	likely benign	9	14804938	14804938	Human		name
405188941	CV3156667	single nucleotide variant	NM_001379081.2(FREM1):c.5335-11T>C	not provided [RCV003859545]	likely benign	9	14756457	14756457	Human		name
402464154	CV3172657	single nucleotide variant	NM_001379081.2(FREM1):c.3839+17G>T	not provided [RCV003872595]	likely benign	9	14797481	14797481	Human		name
404992353	CV3176326	single nucleotide variant	NM_001379081.2(FREM1):c.3088+18T>C	not provided [RCV003881758]	likely benign	9	14807922	14807922	Human		name
11603421	CV317785	single nucleotide variant	NM_001379081.2(FREM1):c.2169+11A>C	Oculotrichoanal syndrome [RCV000299990]\|not provided [RCV000513941]	likely benign\|uncertain significance	9	14824014	14824014	Human	1	name
11604238	CV318291	single nucleotide variant	NM_001379081.2(FREM1):c.3471+11T>C	Oculotrichoanal syndrome [RCV000307598]\|not provided [RCV001672720]	benign	9	14804945	14804945	Human	1	name
405259134	CV3194554	single nucleotide variant	NM_001379081.2(FREM1):c.4443-50A>G	FREM1-related disorder [RCV003893949]	likely benign	9	14776253	14776253	Human		name , trait , alternate_id
597689508	CV3726331	single nucleotide variant	NM_001379081.2(FREM1):c.5205-13C>G	Oculotrichoanal syndrome [RCV005046229]	uncertain significance	9	14759914	14759914	Human	3	name
597689637	CV3726347	single nucleotide variant	NM_001379081.2(FREM1):c.4858-20T>A	Oculotrichoanal syndrome [RCV005046241]	uncertain significance	9	14770826	14770826	Human	3	name
597690154	CV3726375	single nucleotide variant	NM_001379081.2(FREM1):c.3982-12G>T	Oculotrichoanal syndrome [RCV005046263]	uncertain significance	9	14789126	14789126	Human	3	name
597690162	CV3726376	single nucleotide variant	NM_001379081.2(FREM1):c.3982-12G>A	Oculotrichoanal syndrome [RCV005046264]	uncertain significance	9	14789126	14789126	Human	3	name
597690968	CV3726466	single nucleotide variant	NM_001379081.2(FREM1):c.2546+19T>A	Oculotrichoanal syndrome [RCV005046337]	uncertain significance	9	14819215	14819215	Human	3	name
597691049	CV3726476	single nucleotide variant	NM_001379081.2(FREM1):c.2337+20T>C	Oculotrichoanal syndrome [RCV005046345]	uncertain significance	9	14823140	14823140	Human	3	name
597909084	CV3749487	single nucleotide variant	NM_001379081.2(FREM1):c.4443-15G>A	not provided [RCV005073335]	likely benign	9	14776218	14776218	Human		name
597846758	CV3753120	single nucleotide variant	NM_001379081.2(FREM1):c.3694+16C>G	not provided [RCV005087345]	likely benign	9	14801636	14801636	Human		name
597847198	CV3761990	single nucleotide variant	NM_001379081.2(FREM1):c.2079-19C>T	not provided [RCV005087408]	likely benign	9	14824134	14824134	Human		name
597879887	CV3763342	single nucleotide variant	NM_001379081.2(FREM1):c.5797-18G>T	not provided [RCV005108937]	likely benign	9	14747746	14747746	Human		name
597883191	CV3784217	single nucleotide variant	NM_001379081.2(FREM1):c.5845-11G>A	not provided [RCV005124506]	likely benign	9	14747439	14747439	Human		name
597858108	CV3817022	single nucleotide variant	NM_001379081.2(FREM1):c.1262-13C>A	not provided [RCV005146403]	likely benign	9	14846104	14846104	Human		name
28881110	CV903359	single nucleotide variant	NM_001379081.2(FREM1):c.6139-14C>T	Oculotrichoanal syndrome [RCV001167529]	uncertain significance	9	14746482	14746482	Human	1	name
28883255	CV903360	single nucleotide variant	NM_001379081.2(FREM1):c.5335-13T>C	Oculotrichoanal syndrome [RCV001168159]	uncertain significance	9	14756459	14756459	Human	1	name
28883259	CV903361	single nucleotide variant	NM_001379081.2(FREM1):c.5335-15T>C	Oculotrichoanal syndrome [RCV001168160]	uncertain significance	9	14756461	14756461	Human	1	name
28885923	CV903362	single nucleotide variant	NM_001379081.2(FREM1):c.5205-14C>T	Oculotrichoanal syndrome [RCV001168918]\|not provided [RCV002559621]	benign\|likely benign	9	14759915	14759915	Human	1	name
28878269	CV903367	single nucleotide variant	NM_001379081.2(FREM1):c.1394-15T>C	Oculotrichoanal syndrome [RCV001166699]\|Oculotrichoanal syndrome [RCV002497596]\|not provided [RCV004695089]	uncertain significance	9	14842675	14842675	Human	3	name
150500781	CV1213223	single nucleotide variant	NM_001379081.2(FREM1):c.2894-193G>A	not provided [RCV001594635]	benign	9	14808327	14808327	Human		name
150508906	CV1214163	single nucleotide variant	NM_001379081.2(FREM1):c.2169+109A>G	not provided [RCV001596684]	benign	9	14823916	14823916	Human		name
150472923	CV1217260	single nucleotide variant	NM_001379081.2(FREM1):c.6009+105T>G	not provided [RCV001615555]	benign	9	14747159	14747159	Human		name
150454388	CV1219973	single nucleotide variant	NM_001379081.2(FREM1):c.4178-146A>C	not provided [RCV001612355]	benign	9	14784780	14784780	Human		name
150482644	CV1223458	single nucleotide variant	NM_001379081.2(FREM1):c.3839+196C>T	not provided [RCV001617171]	benign	9	14797302	14797302	Human		name
150499400	CV1224583	single nucleotide variant	NM_001379081.2(FREM1):c.5796+226T>C	not provided [RCV001620414]	benign	9	14748175	14748175	Human		name
150513021	CV1228872	single nucleotide variant	NM_001379081.2(FREM1):c.1153-144A>T	not provided [RCV001637714]	benign	9	14848917	14848917	Human		name
150462080	CV1231558	single nucleotide variant	NM_001379081.2(FREM1):c.2079-173T>C	not provided [RCV001641125]	benign	9	14824288	14824288	Human		name
150436269	CV1234035	single nucleotide variant	NM_001379081.2(FREM1):c.3839+197G>C	not provided [RCV001644162]	benign	9	14797301	14797301	Human		name
150481391	CV1238496	single nucleotide variant	NM_001379081.2(FREM1):c.4442+163A>G	not provided [RCV001652937]	benign	9	14784207	14784207	Human		name
150484888	CV1250116	single nucleotide variant	NM_001379081.2(FREM1):c.6341-150G>T	not provided [RCV001673729]	benign	9	14737745	14737745	Human		name
150485872	CV1250318	single nucleotide variant	NM_001379081.2(FREM1):c.1882-152C>T	not provided [RCV001673931]	benign	9	14825144	14825144	Human		name
150505873	CV1254728	single nucleotide variant	NM_001379081.2(FREM1):c.3088+156C>T	not provided [RCV001678033]	benign	9	14807784	14807784	Human		name
150466714	CV1255785	single nucleotide variant	NM_001379081.2(FREM1):c.3472-220G>T	not provided [RCV001670419]	benign	9	14802094	14802094	Human		name
150440807	CV1266974	single nucleotide variant	NM_001379081.2(FREM1):c.4442+117A>G	not provided [RCV001690410]	benign	9	14784253	14784253	Human		name
150493170	CV1267092	single nucleotide variant	NM_001379081.2(FREM1):c.2337+192A>G	not provided [RCV001688119]	benign	9	14822968	14822968	Human		name
150477934	CV1272124	single nucleotide variant	NM_001379081.2(FREM1):c.1153-121T>C	not provided [RCV001696410]	benign	9	14848894	14848894	Human		name
150468120	CV1277686	single nucleotide variant	NM_001379081.2(FREM1):c.2547-173G>A	not provided [RCV001710981]	benign	9	14817044	14817044	Human		name
150457372	CV1278616	single nucleotide variant	NM_001379081.2(FREM1):c.1394-227T>C	not provided [RCV001709231]	benign	9	14842887	14842887	Human		name
150511843	CV1284797	single nucleotide variant	NM_001379081.2(FREM1):c.2641-122G>A	not provided [RCV001721666]	benign	9	14813186	14813186	Human		name
150511912	CV1284815	single nucleotide variant	NM_001379081.2(FREM1):c.6255-124A>T	not provided [RCV001721684]	benign	9	14740358	14740358	Human		name
11635536	CV317736	duplication	NM_144966.5(FREM1):c.854_855dupAA	Oculotrichoanal syndrome [RCV000362446]	uncertain significance	9	14736540	14736541	Human	1	name
150452417	CV1254962	microsatellite	NM_001379081.2(FREM1):c.3839+71GT[7]	not provided [RCV001668021]	benign	9	14797415	14797416	Human		name
11646769	CV307784	deletion	NM_144966.5(FREM1):c.1823_1824delAT	Oculotrichoanal syndrome [RCV000272833]	uncertain significance	9	14735572	14735573	Human	1	name
405127431	CV3053703	single nucleotide variant	NM_001379081.2(FREM1):c.6C>T (p.Asn2=)	not provided [RCV003724507]	likely benign	9	14868972	14868972	Human		name
11654683	CV312017	deletion	NM_144966.5(FREM1):c.2553_2556delGTTT	Oculotrichoanal syndrome [RCV000319959]	uncertain significance	9	14734840	14734843	Human	1	name
597904032	CV3738256	single nucleotide variant	NM_001379081.2(FREM1):c.27G>A (p.Ala9=)	not provided [RCV005072678]	likely benign	9	14868951	14868951	Human		name
401917412	CV2795261	single nucleotide variant	NM_001379081.2(FREM1):c.2T>C (p.Met1Thr)	BNAR syndrome [RCV003389094]	pathogenic	9	14868976	14868976	Human	1	name
402480255	CV2910914	single nucleotide variant	NM_001379081.2(FREM1):c.36G>C (p.Val12=)	not provided [RCV003572001]	likely benign	9	14868942	14868942	Human		name
11606948	CV307868	single nucleotide variant	NM_001379081.2(FREM1):c.45G>T (p.Leu15=)	Oculotrichoanal syndrome [RCV000337907]\|not provided [RCV000972790]	benign\|likely benign	9	14868933	14868933	Human	1	name
11612040	CV312165	single nucleotide variant	NM_001379081.2(FREM1):c.8C>T (p.Ser3Phe)	Oculotrichoanal syndrome [RCV000402721]\|not provided [RCV001850936]	uncertain significance	9	14868970	14868970	Human	1	name
405283499	CV3217179	single nucleotide variant	NM_001379081.2(FREM1):c.42G>C (p.Leu14=)	FREM1-related disorder [RCV003979277]	likely benign	9	14868936	14868936	Human		name , trait , alternate_id
597942124	CV3757549	single nucleotide variant	NM_001379081.2(FREM1):c.42G>A (p.Leu14=)	not provided [RCV005077735]	likely benign	9	14868936	14868936	Human		name
597901701	CV3845480	single nucleotide variant	NM_001379081.2(FREM1):c.45G>C (p.Leu15=)	not provided [RCV005181290]	likely benign	9	14868933	14868933	Human		name
8633299	CV88513	single nucleotide variant	NM_144966.5(FREM1):c.2445C>T (p.Ser815=)	Malignant melanoma [RCV000068606]	not provided	9	14819335	14819335	Human		name
10052250	CV194536	single nucleotide variant	NM_001379081.2(FREM1):c.261C>T (p.Asn87=)	Oculotrichoanal syndrome [RCV002485168]\|not provided [RCV000178389]	conflicting interpretations of pathogenicity\|uncertain significance	9	14863877	14863877	Human	3	name
11606277	CV307859	single nucleotide variant	NM_001379081.2(FREM1):c.207C>T (p.Thr69=)	Oculotrichoanal syndrome [RCV000329787]\|not provided [RCV005055943]	likely benign\|uncertain significance	9	14868771	14868771	Human	1	name
11603014	CV317830	single nucleotide variant	NM_001379081.2(FREM1):c.273T>C (p.Tyr91=)	Oculotrichoanal syndrome [RCV000295784]\|not provided [RCV000972789]	benign\|likely benign	9	14863865	14863865	Human	1	name
597669925	CV3669971	single nucleotide variant	NM_001379081.2(FREM1):c.26C>T (p.Ala9Val)	Inborn genetic diseases [RCV004980147]	likely benign	9	14868952	14868952	Human	1	name
597691713	CV3723078	single nucleotide variant	NM_001379081.2(FREM1):c.216T>G (p.Val72=)	Oculotrichoanal syndrome [RCV005046404]	uncertain significance	9	14868762	14868762	Human	3	name
597715239	CV3723082	single nucleotide variant	NM_001379081.2(FREM1):c.150C>T (p.Ala50=)	Oculotrichoanal syndrome [RCV005049093]	uncertain significance	9	14868828	14868828	Human	3	name
597707346	CV3723090	single nucleotide variant	NM_001379081.2(FREM1):c.13A>T (p.Ser5Cys)	Oculotrichoanal syndrome [RCV005048313]	uncertain significance	9	14868965	14868965	Human	3	name
597836358	CV3757671	single nucleotide variant	NM_001379081.2(FREM1):c.207C>G (p.Thr69=)	not provided [RCV005085685]	likely benign	9	14868771	14868771	Human		name
597884493	CV3799617	single nucleotide variant	NM_001379081.2(FREM1):c.211A>C (p.Arg71=)	not provided [RCV005150284]	likely benign	9	14868767	14868767	Human		name
598230316	CV3970146	single nucleotide variant	NM_001379081.2(FREM1):c.17G>C (p.Trp6Ser)	Inborn genetic diseases [RCV005342230]	uncertain significance	9	14868961	14868961	Human	1	name
15106989	CV723514	single nucleotide variant	NM_001379081.2(FREM1):c.246C>T (p.Cys82=)	Oculotrichoanal syndrome [RCV002495403]\|not provided [RCV000893389]	likely benign\|conflicting interpretations of pathogenicity	9	14863892	14863892	Human	3	name
8633296	CV88510	single nucleotide variant	NM_144966.5(FREM1):c.4560G>A (p.Gly1520=)	Malignant melanoma [RCV000068603]	not provided	9	14776086	14776086	Human		name
28884401	CV901668	single nucleotide variant	NM_001379081.2(FREM1):c.162G>A (p.Glu54=)	Oculotrichoanal syndrome [RCV001168485]	uncertain significance	9	14868816	14868816	Human	1	name
152135418	CV1560365	single nucleotide variant	NM_001379081.2(FREM1):c.396T>C (p.Cys132=)	not provided [RCV002137475]	likely benign	9	14859418	14859418	Human		name
152119263	CV1593620	single nucleotide variant	NM_001379081.2(FREM1):c.483C>T (p.Phe161=)	Oculotrichoanal syndrome [RCV002479899]\|not provided [RCV002097925]	likely benign	9	14859331	14859331	Human	3	name
156418778	CV1918752	single nucleotide variant	NM_001379081.2(FREM1):c.738T>C (p.Arg246=)	not provided [RCV002611987]	likely benign	9	14857643	14857643	Human		name
155989715	CV1990431	single nucleotide variant	NM_001379081.2(FREM1):c.693A>G (p.Gly231=)	FREM1-related disorder [RCV003898447]\|not provided [RCV002617968]	likely benign	9	14857688	14857688	Human		name , alternate_id
155910144	CV2041137	deletion	NM_001379081.2(FREM1):c.3982-22_3982-19del	not provided [RCV002771521]	likely benign	9	14789133	14789136	Human		name
156090074	CV2132331	single nucleotide variant	NM_001379081.2(FREM1):c.459G>T (p.Ala153=)	FREM1-related disorder [RCV003926640]\|not provided [RCV002979569]	benign\|likely benign	9	14859355	14859355	Human		name , alternate_id
156015353	CV2177424	microsatellite	NM_001379081.2(FREM1):c.1153-14_1153-13del	not provided [RCV003035456]	likely benign	9	14848786	14848787	Human		name
243052726	CV2417993	single nucleotide variant	NM_001379081.2(FREM1):c.92G>A (p.Gly31Glu)	Oculotrichoanal syndrome [RCV003153058]	uncertain significance	9	14868886	14868886	Human	1	name
405196701	CV2869691	single nucleotide variant	NM_001379081.2(FREM1):c.447C>G (p.Gly149=)	not provided [RCV003550913]	likely benign	9	14859367	14859367	Human		name
404989215	CV2998653	single nucleotide variant	NM_001379081.2(FREM1):c.342A>G (p.Arg114=)	not provided [RCV003692126]	likely benign	9	14859472	14859472	Human		name
11610893	CV307857	single nucleotide variant	NM_001379081.2(FREM1):c.324T>A (p.Leu108=)	Oculotrichoanal syndrome [RCV000387840]\|not provided [RCV002523772]	likely benign\|uncertain significance	9	14863814	14863814	Human	1	name
11601225	CV307866	single nucleotide variant	NM_001379081.2(FREM1):c.70A>G (p.Thr24Ala)	FREM1-related disorder [RCV004752884]\|Oculotrichoanal syndrome [RCV000280385]\|Oculotrichoanal syndrome [RCV005049529]\|not provided [RCV001764336]	uncertain significance	9	14868908	14868908	Human	3	name , alternate_id
405246161	CV3158104	single nucleotide variant	NM_001379081.2(FREM1):c.897C>T (p.Phe299=)	not provided [RCV003868639]	likely benign	9	14851539	14851539	Human		name
402486006	CV3171405	single nucleotide variant	NM_001379081.2(FREM1):c.873G>A (p.Pro291=)	not provided [RCV003876432]	likely benign	9	14851563	14851563	Human		name
11608392	CV317813	single nucleotide variant	NM_001379081.2(FREM1):c.840G>A (p.Ala280=)	Oculotrichoanal syndrome [RCV000354727]\|not provided [RCV001613228]	benign\|likely benign	9	14851596	14851596	Human	1	name
11604066	CV317815	single nucleotide variant	NM_001379081.2(FREM1):c.639A>G (p.Arg213=)	Oculotrichoanal syndrome [RCV000305751]\|not provided [RCV001637006]	benign	9	14857742	14857742	Human	1	name
11599829	CV317825	single nucleotide variant	NM_001379081.2(FREM1):c.516C>T (p.Thr172=)	Oculotrichoanal syndrome [RCV000268942]\|Oculotrichoanal syndrome [RCV002502406]\|not provided [RCV002058791]	benign\|likely benign	9	14859298	14859298	Human	3	name
402509798	CV3182202	single nucleotide variant	NM_001379081.2(FREM1):c.624A>G (p.Pro208=)	not provided [RCV003878856]	likely benign	9	14859190	14859190	Human		name
11605997	CV318323	single nucleotide variant	NM_001379081.2(FREM1):c.456A>G (p.Gln152=)	Oculotrichoanal syndrome [RCV000326321]\|not provided [RCV001692073]	benign	9	14859358	14859358	Human	1	name
405284994	CV3202341	single nucleotide variant	NM_001379081.2(FREM1):c.459G>A (p.Ala153=)	FREM1-related disorder [RCV003909613]	likely benign	9	14859355	14859355	Human		name , trait , alternate_id
405278278	CV3216550	single nucleotide variant	NM_001379081.2(FREM1):c.903C>T (p.Ala301=)	FREM1-related disorder [RCV003954463]	likely benign	9	14851533	14851533	Human		name , trait , alternate_id
405763256	CV3250919	single nucleotide variant	NM_001379081.2(FREM1):c.80G>C (p.Ser27Thr)	Inborn genetic diseases [RCV004394625]	uncertain significance	9	14868898	14868898	Human	1	name
405763268	CV3250921	single nucleotide variant	NM_001379081.2(FREM1):c.86A>G (p.Asn29Ser)	Inborn genetic diseases [RCV004394627]	uncertain significance	9	14868892	14868892	Human	1	name
597715272	CV3723086	single nucleotide variant	NM_001379081.2(FREM1):c.61G>A (p.Ala21Thr)	Oculotrichoanal syndrome [RCV005049096]	uncertain significance	9	14868917	14868917	Human	3	name
597691763	CV3723087	single nucleotide variant	NM_001379081.2(FREM1):c.56C>T (p.Ala19Val)	Oculotrichoanal syndrome [RCV005046408]	uncertain significance	9	14868922	14868922	Human	3	name
597691770	CV3723088	single nucleotide variant	NM_001379081.2(FREM1):c.55G>C (p.Ala19Pro)	Oculotrichoanal syndrome [RCV005046409]	uncertain significance	9	14868923	14868923	Human	3	name
597707335	CV3723089	single nucleotide variant	NM_001379081.2(FREM1):c.34G>T (p.Val12Leu)	Oculotrichoanal syndrome [RCV005048312]	uncertain significance	9	14868944	14868944	Human	3	name
597839412	CV3737017	single nucleotide variant	NM_001379081.2(FREM1):c.765C>T (p.Pro255=)	not provided [RCV005064497]	likely benign	9	14857616	14857616	Human		name
597862238	CV3745179	single nucleotide variant	NM_001379081.2(FREM1):c.846G>C (p.Leu282=)	not provided [RCV005067535]	likely benign	9	14851590	14851590	Human		name
597893860	CV3763546	single nucleotide variant	NM_001379081.2(FREM1):c.921G>A (p.Val307=)	not provided [RCV005111127]	likely benign	9	14851515	14851515	Human		name
597974647	CV3831764	single nucleotide variant	NM_001379081.2(FREM1):c.859A>C (p.Arg287=)	not provided [RCV005168703]	likely benign	9	14851577	14851577	Human		name
15158080	CV751637	single nucleotide variant	NM_001379081.2(FREM1):c.672C>G (p.Thr224=)	not provided [RCV000924996]	likely benign	9	14857709	14857709	Human		name
15197391	CV751638	single nucleotide variant	NM_001379081.2(FREM1):c.546G>T (p.Leu182=)	FREM1-related disorder [RCV003950751]\|not provided [RCV000911961]	likely benign	9	14859268	14859268	Human		name , alternate_id
8633300	CV88514	single nucleotide variant	NM_144966.5(FREM1):c.1831C>T (p.Gln611Ter)	Malignant melanoma [RCV000068607]	not provided	9	14841497	14841497	Human		name
28876780	CV901665	single nucleotide variant	NM_001379081.2(FREM1):c.597T>G (p.Arg199=)	Oculotrichoanal syndrome [RCV001166248]\|not provided [RCV005056973]	likely benign\|uncertain significance	9	14859217	14859217	Human	1	name
28884403	CV901669	single nucleotide variant	NM_001379081.2(FREM1):c.49C>T (p.Leu17Phe)	Oculotrichoanal syndrome [RCV001168486]	uncertain significance	9	14868929	14868929	Human	1	name
126737984	CV1020618	deletion	NM_001379081.2(FREM1):c.990del (p.Leu331fs)	BNAR syndrome [RCV001335427]	pathogenic	9	14851446	14851446	Human		name
150472485	CV1217188	insertion	NM_001379081.2(FREM1):c.4857+57_4857+58insC	not provided [RCV001615483]	benign	9	14775731	14775732	Human		name
8651137	CV127712	single nucleotide variant	NM_144966.5(FREM1):c.3428C>G (p.Pro1143Arg)	Lung cancer [RCV000108199]	uncertain significance	9	14804999	14804999	Human		name
151882588	CV1383845	single nucleotide variant	NM_001379081.2(FREM1):c.253C>T (p.Leu85Phe)	not provided [RCV001886758]	uncertain significance	9	14863885	14863885	Human		name
152072331	CV1552302	single nucleotide variant	NM_001379081.2(FREM1):c.2604T>C (p.Asp868=)	not provided [RCV002148251]	likely benign	9	14816814	14816814	Human		name
152140626	CV1625165	single nucleotide variant	NM_001379081.2(FREM1):c.2811G>A (p.Gly937=)	Oculotrichoanal syndrome [RCV002494135]\|not provided [RCV002219322]	likely benign	9	14812894	14812894	Human	3	name
156251636	CV1867879	single nucleotide variant	NM_001379081.2(FREM1):c.2718G>A (p.Glu906=)	not provided [RCV003060048]	likely benign	9	14812987	14812987	Human		name
10047907	CV191603	single nucleotide variant	NM_001379081.2(FREM1):c.2274C>A (p.Gly758=)	Oculotrichoanal syndrome [RCV000367510]\|not provided [RCV000968851]\|not specified [RCV000174808]	benign\|likely benign	9	14823223	14823223	Human	1	name
156435712	CV1937113	single nucleotide variant	NM_001379081.2(FREM1):c.2757G>C (p.Val919=)	not provided [RCV003104980]	likely benign	9	14812948	14812948	Human		name
156176441	CV1953149	single nucleotide variant	NM_001379081.2(FREM1):c.2898C>T (p.Gly966=)	not provided [RCV002573976]	likely benign	9	14808130	14808130	Human		name
156209051	CV1959531	single nucleotide variant	NM_001379081.2(FREM1):c.1902T>C (p.Thr634=)	not provided [RCV002575080]	likely benign	9	14824972	14824972	Human		name
156126183	CV1962840	single nucleotide variant	NM_001379081.2(FREM1):c.1173C>T (p.Asp391=)	not provided [RCV002572051]	likely benign	9	14848753	14848753	Human		name
156075359	CV1979161	single nucleotide variant	NM_001379081.2(FREM1):c.2340G>T (p.Ala780=)	not provided [RCV002621372]	likely benign	9	14819440	14819440	Human		name
156398807	CV1984675	single nucleotide variant	NM_001379081.2(FREM1):c.1518C>T (p.Ile506=)	not provided [RCV002605403]	likely benign	9	14842536	14842536	Human		name
156109620	CV2002223	single nucleotide variant	NM_001379081.2(FREM1):c.1296C>T (p.Ile432=)	not provided [RCV002639885]	likely benign	9	14846057	14846057	Human		name
156308041	CV2021574	single nucleotide variant	NM_001379081.2(FREM1):c.2478G>A (p.Glu826=)	not provided [RCV002716375]	likely benign	9	14819302	14819302	Human		name
156315537	CV2070990	single nucleotide variant	NM_001379081.2(FREM1):c.245G>T (p.Cys82Phe)	not provided [RCV002834377]	uncertain significance	9	14863893	14863893	Human		name
156179702	CV2177695	single nucleotide variant	NM_001379081.2(FREM1):c.243C>G (p.Asp81Glu)	not provided [RCV003057488]	uncertain significance	9	14863895	14863895	Human		name
156139056	CV2250370	single nucleotide variant	NM_001379081.2(FREM1):c.260A>G (p.Asn87Ser)	Inborn genetic diseases [RCV002826071]\|Oculotrichoanal syndrome [RCV005050779]	uncertain significance	9	14863878	14863878	Human	4	name
155992445	CV2381486	single nucleotide variant	NM_001379081.2(FREM1):c.262G>A (p.Glu88Lys)	Inborn genetic diseases [RCV002733427]	uncertain significance	9	14863876	14863876	Human	1	name
11581710	CV269506	single nucleotide variant	NM_001379081.2(FREM1):c.1464C>T (p.Ser488=)	Oculotrichoanal syndrome [RCV000381158]\|not provided [RCV000960044]\|not specified [RCV000277082]	benign\|likely benign\|uncertain significance	9	14842590	14842590	Human	1	name
11636572	CV270313	single nucleotide variant	NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn)	Oculotrichoanal syndrome [RCV002487230]\|not provided [RCV000271171]	uncertain significance	9	14863897	14863897	Human	3	name
11640534	CV273859	single nucleotide variant	NM_001379081.2(FREM1):c.292A>G (p.Ile98Val)	Oculotrichoanal syndrome [RCV002494886]\|not provided [RCV000340588]	uncertain significance	9	14863846	14863846	Human	3	name
401883919	CV2761155	single nucleotide variant	NM_001379081.2(FREM1):c.252C>G (p.Phe84Leu)	Inborn genetic diseases [RCV003351096]\|Oculotrichoanal syndrome [RCV005047542]	uncertain significance	9	14863886	14863886	Human	4	name
401924377	CV2828778	single nucleotide variant	NM_001379081.2(FREM1):c.2058A>G (p.Pro686=)	not provided [RCV003435720]	likely benign	9	14824816	14824816	Human		name
402502126	CV2869274	single nucleotide variant	NM_001379081.2(FREM1):c.2127A>G (p.Val709=)	FREM1-related disorder [RCV003901133]\|not provided [RCV003546017]	likely benign	9	14824067	14824067	Human		name , alternate_id
405199347	CV2876827	single nucleotide variant	NM_001379081.2(FREM1):c.1578C>A (p.Thr526=)	not provided [RCV003551168]	likely benign	9	14842476	14842476	Human		name
405149184	CV2891934	single nucleotide variant	NM_001379081.2(FREM1):c.2385C>A (p.Ile795=)	not provided [RCV003561601]	likely benign	9	14819395	14819395	Human		name
402508229	CV2941780	single nucleotide variant	NM_001379081.2(FREM1):c.1875G>A (p.Val625=)	not provided [RCV003662287]	likely benign	9	14841453	14841453	Human		name
405214471	CV2981406	single nucleotide variant	NM_001379081.2(FREM1):c.2709G>A (p.Glu903=)	not provided [RCV003709132]	likely benign	9	14812996	14812996	Human		name
405159634	CV3061757	single nucleotide variant	NM_001379081.2(FREM1):c.1320C>T (p.Val440=)	not provided [RCV003727004]	likely benign	9	14846033	14846033	Human		name
405192837	CV3066197	single nucleotide variant	NM_001379081.2(FREM1):c.1020G>A (p.Pro340=)	not provided [RCV003729891]	likely benign	9	14851416	14851416	Human		name
11598937	CV307831	single nucleotide variant	NM_001379081.2(FREM1):c.2796C>T (p.Arg932=)	FREM1-related disorder [RCV003912572]\|Oculotrichoanal syndrome [RCV000261621]\|not provided [RCV000888121]	benign\|likely benign\|uncertain significance	9	14812909	14812909	Human	1	name , alternate_id
11607714	CV307833	single nucleotide variant	NM_001379081.2(FREM1):c.2526T>C (p.Asp842=)	Oculotrichoanal syndrome [RCV000346979]\|not provided [RCV005090607]	likely benign\|uncertain significance	9	14819254	14819254	Human	1	name
11605000	CV307835	single nucleotide variant	NM_001379081.2(FREM1):c.2277T>C (p.Gly759=)	Oculotrichoanal syndrome [RCV000315080]\|not provided [RCV001613226]	benign\|likely benign	9	14823220	14823220	Human	1	name
11610202	CV307840	single nucleotide variant	NM_001379081.2(FREM1):c.2073C>T (p.Ser691=)	Oculotrichoanal syndrome [RCV000378533]\|not provided [RCV001613227]	benign\|likely benign	9	14824801	14824801	Human	1	name
405137509	CV3144716	single nucleotide variant	NM_001379081.2(FREM1):c.1875G>T (p.Val625=)	not provided [RCV003855233]	likely benign	9	14841453	14841453	Human		name
405054781	CV3151337	single nucleotide variant	NM_001379081.2(FREM1):c.2223T>G (p.Gly741=)	not provided [RCV003849746]	likely benign	9	14823274	14823274	Human		name
405247237	CV3158727	single nucleotide variant	NM_001379081.2(FREM1):c.2208C>T (p.Pro736=)	not provided [RCV003869069]	likely benign	9	14823289	14823289	Human		name
405134047	CV3163946	single nucleotide variant	NM_001379081.2(FREM1):c.2712A>C (p.Gly904=)	not provided [RCV003854934]	likely benign	9	14812993	14812993	Human		name
404997629	CV3172990	single nucleotide variant	NM_001379081.2(FREM1):c.1539C>T (p.Asn513=)	not provided [RCV003882272]	likely benign	9	14842515	14842515	Human		name
402467951	CV3174217	single nucleotide variant	NM_001379081.2(FREM1):c.1104C>T (p.Ile368=)	not provided [RCV003873500]	likely benign	9	14851332	14851332	Human		name
11601870	CV317782	single nucleotide variant	NM_001379081.2(FREM1):c.2727C>T (p.Ile909=)	Oculotrichoanal syndrome [RCV000286222]\|not provided [RCV002058788]	likely benign\|uncertain significance	9	14812978	14812978	Human	1	name
11605506	CV317787	single nucleotide variant	NM_001379081.2(FREM1):c.1791T>C (p.Tyr597=)	Oculotrichoanal syndrome [RCV000320333]\|not provided [RCV000963925]	benign\|likely benign	9	14841537	14841537	Human	1	name
11602302	CV317789	single nucleotide variant	NM_001379081.2(FREM1):c.1512C>T (p.His504=)	Oculotrichoanal syndrome [RCV000289894]\|not provided [RCV000975207]	benign\|likely benign	9	14842542	14842542	Human	1	name
11608008	CV317790	single nucleotide variant	NM_001379081.2(FREM1):c.1119A>T (p.Pro373=)	Oculotrichoanal syndrome [RCV000349938]	uncertain significance	9	14851317	14851317	Human	1	name
11611433	CV317800	single nucleotide variant	NM_001379081.2(FREM1):c.1047G>A (p.Leu349=)	FREM1-related disorder [RCV003912573]\|Oculotrichoanal syndrome [RCV000395026]\|not provided [RCV000970200]	benign\|likely benign	9	14851389	14851389	Human	1	name , alternate_id
11610794	CV317834	single nucleotide variant	NM_001379081.2(FREM1):c.100G>T (p.Val34Leu)	BNAR syndrome [RCV001331735]\|Oculotrichoanal syndrome [RCV000386513]	uncertain significance	9	14868878	14868878	Human	2	name
11607580	CV318302	single nucleotide variant	NM_001379081.2(FREM1):c.2358A>G (p.Lys786=)	Oculotrichoanal syndrome [RCV000345461]\|not provided [RCV000965098]	benign\|likely benign	9	14819422	14819422	Human	1	name
405285061	CV3202412	single nucleotide variant	NM_001379081.2(FREM1):c.1668C>T (p.Tyr556=)	FREM1-related disorder [RCV003909681]	likely benign	9	14842386	14842386	Human		name , trait , alternate_id
407494732	CV3442908	single nucleotide variant	NM_001379081.2(FREM1):c.257C>A (p.Pro86His)	Inborn genetic diseases [RCV004621400]	uncertain significance	9	14863881	14863881	Human	1	name
407494744	CV3442912	single nucleotide variant	NM_001379081.2(FREM1):c.286T>C (p.Cys96Arg)	Inborn genetic diseases [RCV004621404]	uncertain significance	9	14863852	14863852	Human	1	name
407494761	CV3442917	single nucleotide variant	NM_001379081.2(FREM1):c.103A>C (p.Met35Leu)	Inborn genetic diseases [RCV004621409]	uncertain significance	9	14868875	14868875	Human	1	name
597691232	CV3723021	single nucleotide variant	NM_001379081.2(FREM1):c.1974G>A (p.Val658=)	Oculotrichoanal syndrome [RCV005046361]	uncertain significance	9	14824900	14824900	Human	3	name
597691649	CV3723073	single nucleotide variant	NM_001379081.2(FREM1):c.284G>A (p.Gly95Asp)	Oculotrichoanal syndrome [RCV005046398]	uncertain significance	9	14863854	14863854	Human	3	name
597691659	CV3723074	single nucleotide variant	NM_001379081.2(FREM1):c.277C>T (p.His93Tyr)	Oculotrichoanal syndrome [RCV005046399]	uncertain significance	9	14863861	14863861	Human	3	name
597691669	CV3723075	single nucleotide variant	NM_001379081.2(FREM1):c.269A>T (p.Lys90Met)	Oculotrichoanal syndrome [RCV005046400]	uncertain significance	9	14863869	14863869	Human	3	name
597691688	CV3723076	single nucleotide variant	NM_001379081.2(FREM1):c.261C>G (p.Asn87Lys)	Oculotrichoanal syndrome [RCV005046402]	uncertain significance	9	14863877	14863877	Human	3	name
597691701	CV3723077	single nucleotide variant	NM_001379081.2(FREM1):c.235G>C (p.Val79Leu)	Oculotrichoanal syndrome [RCV005046403]	uncertain significance	9	14863903	14863903	Human	3	name
597691725	CV3723079	single nucleotide variant	NM_001379081.2(FREM1):c.215T>C (p.Val72Ala)	Oculotrichoanal syndrome [RCV005046405]	uncertain significance	9	14868763	14868763	Human	3	name
597715217	CV3723080	single nucleotide variant	NM_001379081.2(FREM1):c.214G>C (p.Val72Leu)	Oculotrichoanal syndrome [RCV005049091]	uncertain significance	9	14868764	14868764	Human	3	name
597715227	CV3723081	single nucleotide variant	NM_001379081.2(FREM1):c.199C>G (p.Pro67Ala)	Oculotrichoanal syndrome [RCV005049092]	uncertain significance	9	14868779	14868779	Human	3	name
597691738	CV3723083	single nucleotide variant	NM_001379081.2(FREM1):c.136G>A (p.Asp46Asn)	Oculotrichoanal syndrome [RCV005046406]	uncertain significance	9	14868842	14868842	Human	3	name
597715250	CV3723084	single nucleotide variant	NM_001379081.2(FREM1):c.114C>G (p.His38Gln)	Oculotrichoanal syndrome [RCV005049094]	uncertain significance	9	14868864	14868864	Human	3	name
597715262	CV3723085	single nucleotide variant	NM_001379081.2(FREM1):c.110G>A (p.Gly37Asp)	Oculotrichoanal syndrome [RCV005049095]	uncertain significance	9	14868868	14868868	Human	3	name
597690956	CV3726462	single nucleotide variant	NM_001379081.2(FREM1):c.2607C>T (p.Gly869=)	Oculotrichoanal syndrome [RCV005046336]	uncertain significance	9	14816811	14816811	Human	3	name
597714992	CV3726468	single nucleotide variant	NM_001379081.2(FREM1):c.2466C>T (p.His822=)	Oculotrichoanal syndrome [RCV005049071]	uncertain significance	9	14819314	14819314	Human	3	name
597691007	CV3726472	single nucleotide variant	NM_001379081.2(FREM1):c.2451G>A (p.Arg817=)	Oculotrichoanal syndrome [RCV005046341]	uncertain significance	9	14819329	14819329	Human	3	name
597691028	CV3726474	single nucleotide variant	NM_001379081.2(FREM1):c.2361G>A (p.Val787=)	Oculotrichoanal syndrome [RCV005046343]	uncertain significance	9	14819419	14819419	Human	3	name
597691121	CV3726483	single nucleotide variant	NM_001379081.2(FREM1):c.2124A>G (p.Lys708=)	Oculotrichoanal syndrome [RCV005046351]	uncertain significance	9	14824070	14824070	Human	3	name
597846399	CV3736600	single nucleotide variant	NM_001379081.2(FREM1):c.1482C>T (p.Phe494=)	not provided [RCV005065759]	likely benign	9	14842572	14842572	Human		name
597831602	CV3740052	single nucleotide variant	NM_001379081.2(FREM1):c.1653C>T (p.Asp551=)	not provided [RCV005062750]	likely benign	9	14842401	14842401	Human		name
597895442	CV3744169	single nucleotide variant	NM_001379081.2(FREM1):c.1353C>T (p.Val451=)	not provided [RCV005071639]	likely benign	9	14846000	14846000	Human		name
597947692	CV3759033	single nucleotide variant	NM_001379081.2(FREM1):c.1566G>C (p.Pro522=)	not provided [RCV005078829]	likely benign	9	14842488	14842488	Human		name
597899621	CV3774525	single nucleotide variant	NM_001379081.2(FREM1):c.1636C>A (p.Arg546=)	not provided [RCV005112060]	likely benign	9	14842418	14842418	Human		name
597872849	CV3836164	single nucleotide variant	NM_001379081.2(FREM1):c.1581T>C (p.Asn527=)	not provided [RCV005176961]	likely benign	9	14842473	14842473	Human		name
597944137	CV3847678	single nucleotide variant	NM_001379081.2(FREM1):c.2523C>T (p.Gly841=)	not provided [RCV005188406]	likely benign	9	14819257	14819257	Human		name
597922219	CV3861883	single nucleotide variant	NM_001379081.2(FREM1):c.2349C>T (p.Asn783=)	not provided [RCV005205259]	likely benign	9	14819431	14819431	Human		name
13831975	CV582472	deletion	NM_001379081.2(FREM1):c.939del (p.Ser314fs)	not provided [RCV000722660]	uncertain significance	9	14851497	14851497	Human		name
15180825	CV711905	single nucleotide variant	NM_001379081.2(FREM1):c.1884G>A (p.Val628=)	not provided [RCV000974244]	benign	9	14824990	14824990	Human		name
15104982	CV767364	single nucleotide variant	NM_001379081.2(FREM1):c.2601C>T (p.Thr867=)	not provided [RCV000937497]	benign	9	14816817	14816817	Human		name
15144344	CV783388	single nucleotide variant	NM_001379081.2(FREM1):c.2226C>A (p.Pro742=)	not provided [RCV000983474]	likely benign	9	14823271	14823271	Human		name
21069943	CV796292	single nucleotide variant	NM_001379081.2(FREM1):c.1425C>T (p.Asp475=)	not provided [RCV000999141]	uncertain significance	9	14842629	14842629	Human		name
8633297	CV88511	single nucleotide variant	NM_144966.5(FREM1):c.4540G>A (p.Gly1514Arg)	Malignant melanoma [RCV000068604]	not provided	9	14776106	14776106	Human		name
8633298	CV88512	single nucleotide variant	NM_144966.5(FREM1):c.3632C>T (p.Pro1211Leu)	Malignant melanoma [RCV000068605]	not provided	9	14801714	14801714	Human		name
28884006	CV901650	single nucleotide variant	NM_001379081.2(FREM1):c.2442C>T (p.Leu814=)	Oculotrichoanal syndrome [RCV001168370]	uncertain significance	9	14819338	14819338	Human	1	name
28886647	CV901652	single nucleotide variant	NM_001379081.2(FREM1):c.2152C>T (p.Leu718=)	Oculotrichoanal syndrome [RCV001169120]	uncertain significance	9	14824042	14824042	Human	1	name
28876601	CV901653	single nucleotide variant	NM_001379081.2(FREM1):c.1917G>A (p.Gln639=)	Oculotrichoanal syndrome [RCV001166198]	uncertain significance	9	14824957	14824957	Human	1	name
28876604	CV901654	single nucleotide variant	NM_001379081.2(FREM1):c.1881G>A (p.Gln627=)	Oculotrichoanal syndrome [RCV001166199]	uncertain significance	9	14841447	14841447	Human	1	name
28876608	CV901655	single nucleotide variant	NM_001379081.2(FREM1):c.1878A>G (p.Pro626=)	Oculotrichoanal syndrome [RCV001166200]	uncertain significance	9	14841450	14841450	Human	1	name
28878262	CV901656	single nucleotide variant	NM_001379081.2(FREM1):c.1416C>T (p.Thr472=)	Oculotrichoanal syndrome [RCV001166697]	uncertain significance	9	14842638	14842638	Human	1	name
28884211	CV901658	single nucleotide variant	NM_001379081.2(FREM1):c.1329C>T (p.Asp443=)	Oculotrichoanal syndrome [RCV001168429]\|not provided [RCV003727935]	benign\|likely benign	9	14846024	14846024	Human	1	name
28884221	CV901660	single nucleotide variant	NM_001379081.2(FREM1):c.1053C>T (p.His351=)	Oculotrichoanal syndrome [RCV001168431]\|not provided [RCV002558668]	likely benign\|uncertain significance	9	14851383	14851383	Human	1	name
38598697	CV901661	single nucleotide variant	NM_001379081.2(FREM1):c.1038T>C (p.Thr346=)	Oculotrichoanal syndrome [RCV001253980]\|not provided [RCV002069349]	likely benign\|uncertain significance	9	14851398	14851398	Human	1	name
126913792	CV1037928	single nucleotide variant	NM_001379081.2(FREM1):c.617T>C (p.Phe206Ser)	not provided [RCV001357704]	uncertain significance	9	14859197	14859197	Human		name
150472888	CV1272563	insertion	NM_001379081.2(FREM1):c.4857+57_4857+58insCT	not provided [RCV001695619]	benign	9	14775731	14775732	Human		name
150554557	CV1304269	single nucleotide variant	NM_001379081.2(FREM1):c.982C>G (p.Pro328Ala)	Oculotrichoanal syndrome [RCV005040362]\|not provided [RCV001771239]	uncertain significance	9	14851454	14851454	Human	3	name
151661738	CV1332743	single nucleotide variant	NM_001379081.2(FREM1):c.631C>T (p.Gln211Ter)	BNAR syndrome [RCV001836680]	likely pathogenic	9	14859183	14859183	Human	1	name
151772467	CV1357233	single nucleotide variant	NM_001379081.2(FREM1):c.973G>T (p.Asp325Tyr)	Oculotrichoanal syndrome [RCV005050424]\|not provided [RCV001864207]	uncertain significance	9	14851463	14851463	Human	3	name
151779936	CV1458038	single nucleotide variant	NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=)	Oculotrichoanal syndrome [RCV002492129]\|not provided [RCV001950974]	likely benign	9	14770681	14770681	Human	3	name
151761139	CV1496352	single nucleotide variant	NM_001379081.2(FREM1):c.988C>T (p.Pro330Ser)	not provided [RCV001895332]	uncertain significance	9	14851448	14851448	Human		name
151765696	CV1517289	single nucleotide variant	NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser)	Oculotrichoanal syndrome [RCV002486757]\|not provided [RCV002024864]	uncertain significance	9	14859467	14859467	Human	3	name
152055484	CV1522075	single nucleotide variant	NM_001379081.2(FREM1):c.4476C>T (p.His1492=)	not provided [RCV002189908]	likely benign	9	14776170	14776170	Human		name
152171228	CV1562195	single nucleotide variant	NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=)	Oculotrichoanal syndrome [RCV002486981]\|not provided [RCV002183429]	benign\|likely benign	9	14770615	14770615	Human	3	name
152127955	CV1572166	single nucleotide variant	NM_001379081.2(FREM1):c.5532A>G (p.Ala1844=)	not provided [RCV002217667]	likely benign	9	14750152	14750152	Human		name
152093052	CV1584624	single nucleotide variant	NM_001379081.2(FREM1):c.4263C>T (p.Asp1421=)	not provided [RCV002114337]	likely benign	9	14784549	14784549	Human		name
152034938	CV1584727	single nucleotide variant	NM_001379081.2(FREM1):c.6231G>A (p.Ala2077=)	FREM1-related disorder [RCV003958840]\|not provided [RCV002125179]	likely benign	9	14746376	14746376	Human		name , alternate_id
152028270	CV1586821	single nucleotide variant	NM_001379081.2(FREM1):c.6189C>T (p.Tyr2063=)	not provided [RCV002085410]	likely benign	9	14746418	14746418	Human		name
8556570	CV17027	deletion	NM_001379081.2(FREM1):c.2722del (p.Val908fs)	BNAR syndrome [RCV000002065]\|Oculotrichoanal syndrome [RCV004760316]	pathogenic	9	14812983	14812983	Human	2	name
156200624	CV1882977	single nucleotide variant	NM_001379081.2(FREM1):c.4482G>A (p.Val1494=)	not provided [RCV003084201]	likely benign	9	14776164	14776164	Human		name
156371363	CV1901379	single nucleotide variant	NM_001379081.2(FREM1):c.3723C>T (p.Asp1241=)	not provided [RCV002582437]	likely benign	9	14797614	14797614	Human		name
156192082	CV1904175	single nucleotide variant	NM_001379081.2(FREM1):c.4353C>T (p.Pro1451=)	not provided [RCV002574446]	likely benign	9	14784459	14784459	Human		name
156295366	CV1904601	single nucleotide variant	NM_001379081.2(FREM1):c.4578C>G (p.Ser1526=)	not provided [RCV002598925]	likely benign	9	14776068	14776068	Human		name
156103228	CV1907257	single nucleotide variant	NM_001379081.2(FREM1):c.5268G>A (p.Val1756=)	not provided [RCV003080684]	likely benign	9	14759838	14759838	Human		name
156402282	CV1908097	single nucleotide variant	NM_001379081.2(FREM1):c.3138C>T (p.Asn1046=)	not provided [RCV002585013]	likely benign	9	14806797	14806797	Human		name
156417556	CV1909825	single nucleotide variant	NM_001379081.2(FREM1):c.581G>A (p.Arg194Gln)	FREM1-related disorder [RCV004753633]\|Inborn genetic diseases [RCV003368011]\|not provided [RCV002610780]	likely benign\|uncertain significance	9	14859233	14859233	Human	1	name , alternate_id
156417562	CV1909831	single nucleotide variant	NM_001379081.2(FREM1):c.366C>G (p.Ile122Met)	not provided [RCV002610783]	uncertain significance	9	14859448	14859448	Human		name
156405340	CV1913055	single nucleotide variant	NM_001379081.2(FREM1):c.3045C>T (p.Ile1015=)	Oculotrichoanal syndrome [RCV005045325]\|not provided [RCV002606307]	likely benign\|uncertain significance	9	14807983	14807983	Human	3	name
156373800	CV1921156	single nucleotide variant	NM_001379081.2(FREM1):c.3681A>G (p.Glu1227=)	not provided [RCV002603415]	likely benign	9	14801665	14801665	Human		name
10050589	CV192154	single nucleotide variant	NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)	Oculotrichoanal syndrome [RCV001169035]\|not provided [RCV000907658]\|not specified [RCV000175489]	benign\|likely benign\|uncertain significance	9	14806788	14806788	Human	1	name
156409642	CV1922799	single nucleotide variant	NM_001379081.2(FREM1):c.674C>T (p.Pro225Leu)	Inborn genetic diseases [RCV004978706]\|not provided [RCV002607619]	likely benign\|uncertain significance	9	14857707	14857707	Human	1	name
156409947	CV1932045	single nucleotide variant	NM_001379081.2(FREM1):c.4365C>T (p.Phe1455=)	not provided [RCV002607711]	likely benign	9	14784447	14784447	Human		name
10052588	CV195032	single nucleotide variant	NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)	FREM1-related disorder [RCV003977470]\|not provided [RCV000179012]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	14859273	14859273	Human		name , alternate_id
10052589	CV195033	single nucleotide variant	NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg)	Oculotrichoanal syndrome [RCV001166249]\|not provided [RCV000179013]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	14859243	14859243	Human	1	name
156409021	CV1954609	single nucleotide variant	NM_001379081.2(FREM1):c.4128C>T (p.Asn1376=)	FREM1-related disorder [RCV003896233]\|not provided [RCV002586685]	likely benign	9	14788968	14788968	Human		name , alternate_id
156410772	CV1958519	single nucleotide variant	NM_001379081.2(FREM1):c.3267A>C (p.Ile1089=)	not provided [RCV002587262]	likely benign	9	14806668	14806668	Human		name
156167053	CV1959926	single nucleotide variant	NM_001379081.2(FREM1):c.5316G>A (p.Ser1772=)	not provided [RCV002573699]	likely benign	9	14759790	14759790	Human		name
156323326	CV1976343	single nucleotide variant	NM_001379081.2(FREM1):c.4413C>T (p.Ser1471=)	not provided [RCV002600372]	likely benign	9	14784399	14784399	Human		name
156096697	CV1980988	single nucleotide variant	NM_001379081.2(FREM1):c.923A>G (p.Asp308Gly)	not provided [RCV002622061]	uncertain significance	9	14851513	14851513	Human		name
156351788	CV1985672	single nucleotide variant	NM_001379081.2(FREM1):c.770T>C (p.Ile257Thr)	not provided [RCV002632029]	uncertain significance	9	14857611	14857611	Human		name
156336830	CV1997243	single nucleotide variant	NM_001379081.2(FREM1):c.4677G>A (p.Gly1559=)	not provided [RCV002650113]	likely benign	9	14775969	14775969	Human		name
156310885	CV2000076	single nucleotide variant	NM_001379081.2(FREM1):c.4119T>C (p.Asp1373=)	not provided [RCV002671628]	likely benign	9	14788977	14788977	Human		name
156391270	CV2006202	single nucleotide variant	NM_001379081.2(FREM1):c.5028A>G (p.Pro1676=)	not provided [RCV002654405]	likely benign	9	14770636	14770636	Human		name
156097975	CV2012989	single nucleotide variant	NM_001379081.2(FREM1):c.3585C>T (p.Leu1195=)	not provided [RCV002706557]	likely benign	9	14801761	14801761	Human		name
156219191	CV2015415	single nucleotide variant	NM_001379081.2(FREM1):c.3021C>G (p.Ser1007=)	not provided [RCV002700938]	likely benign	9	14808007	14808007	Human		name
156236152	CV2016234	single nucleotide variant	NM_001379081.2(FREM1):c.3378A>T (p.Thr1126=)	not provided [RCV002701553]	likely benign	9	14805049	14805049	Human		name
156376217	CV2024732	single nucleotide variant	NM_001379081.2(FREM1):c.898A>G (p.Met300Val)	not provided [RCV002721941]	uncertain significance	9	14851538	14851538	Human		name
156016326	CV2044076	single nucleotide variant	NM_001379081.2(FREM1):c.5313C>T (p.Asp1771=)	not provided [RCV002795366]	likely benign	9	14759793	14759793	Human		name
156234459	CV2072280	single nucleotide variant	NM_001379081.2(FREM1):c.3420A>T (p.Ile1140=)	not provided [RCV002830174]	likely benign	9	14805007	14805007	Human		name
156221093	CV2124364	single nucleotide variant	NM_001379081.2(FREM1):c.5157G>A (p.Val1719=)	not provided [RCV002958144]	likely benign	9	14769771	14769771	Human		name
155901041	CV2126926	single nucleotide variant	NM_001379081.2(FREM1):c.5361A>G (p.Gly1787=)	not provided [RCV002967420]	likely benign	9	14756420	14756420	Human		name
156042082	CV2130737	single nucleotide variant	NM_001379081.2(FREM1):c.5232A>G (p.Glu1744=)	not provided [RCV002949660]	likely benign	9	14759874	14759874	Human		name
156267358	CV2135081	single nucleotide variant	NM_001379081.2(FREM1):c.4410G>A (p.Lys1470=)	not provided [RCV002988696]	likely benign	9	14784402	14784402	Human		name
156078870	CV2141935	single nucleotide variant	NM_001379081.2(FREM1):c.387A>T (p.Glu129Asp)	Inborn genetic diseases [RCV005343559]\|Oculotrichoanal syndrome [RCV005045129]\|not provided [RCV002979188]	uncertain significance	9	14859427	14859427	Human	4	name
155942032	CV2158196	single nucleotide variant	NM_001379081.2(FREM1):c.5934A>G (p.Gln1978=)	not provided [RCV003014332]	likely benign	9	14747339	14747339	Human		name
156293662	CV2166364	single nucleotide variant	NM_001379081.2(FREM1):c.5877T>C (p.Asp1959=)	not provided [RCV003045244]	likely benign	9	14747396	14747396	Human		name
156340112	CV2179734	single nucleotide variant	NM_001379081.2(FREM1):c.4038G>T (p.Val1346=)	not provided [RCV003030238]	likely benign	9	14789058	14789058	Human		name
156172219	CV2188252	single nucleotide variant	NM_001379081.2(FREM1):c.6186C>T (p.Gly2062=)	not provided [RCV003041067]	likely benign	9	14746421	14746421	Human		name
156331458	CV2220528	single nucleotide variant	NM_001379081.2(FREM1):c.907T>G (p.Phe303Val)	Inborn genetic diseases [RCV002718040]	uncertain significance	9	14851529	14851529	Human	1	name
156220596	CV2222362	single nucleotide variant	NM_001379081.2(FREM1):c.356A>C (p.Glu119Ala)	Inborn genetic diseases [RCV002767011]\|Oculotrichoanal syndrome [RCV005045400]	uncertain significance	9	14859458	14859458	Human	4	name
155979994	CV2243894	single nucleotide variant	NM_001379081.2(FREM1):c.666C>G (p.Ser222Arg)	Inborn genetic diseases [RCV002777621]\|Oculotrichoanal syndrome [RCV005045411]	uncertain significance	9	14857715	14857715	Human	4	name
156108994	CV2254491	single nucleotide variant	NM_001379081.2(FREM1):c.755C>T (p.Pro252Leu)	Inborn genetic diseases [RCV002799601]\|Oculotrichoanal syndrome [RCV005045419]	uncertain significance	9	14857626	14857626	Human	4	name
156153217	CV2265977	single nucleotide variant	NM_001379081.2(FREM1):c.776A>T (p.Tyr259Phe)	Inborn genetic diseases [RCV002826910]	uncertain significance	9	14857605	14857605	Human	1	name
156200967	CV2350956	single nucleotide variant	NM_001379081.2(FREM1):c.818T>C (p.Ile273Thr)	Inborn genetic diseases [RCV002985207]	uncertain significance	9	14857563	14857563	Human	1	name
156201347	CV2363021	single nucleotide variant	NM_001379081.2(FREM1):c.483C>A (p.Phe161Leu)	Inborn genetic diseases [RCV002666497]	uncertain significance	9	14859331	14859331	Human	1	name
243064709	CV2410228	single nucleotide variant	NM_001379081.2(FREM1):c.737G>A (p.Arg246His)	Oculotrichoanal syndrome [RCV005051268]\|not provided [RCV003143411]	uncertain significance	9	14857644	14857644	Human	3	name
329379053	CV2460127	single nucleotide variant	NM_001379081.2(FREM1):c.349T>G (p.Phe117Val)	Inborn genetic diseases [RCV003212351]	uncertain significance	9	14859465	14859465	Human	1	name
11544697	CV253487	single nucleotide variant	NM_001379081.2(FREM1):c.5859T>C (p.Val1953=)	Oculotrichoanal syndrome [RCV000268325]\|not provided [RCV001610750]\|not specified [RCV000244139]	benign\|likely benign	9	14747414	14747414	Human	1	name
11550729	CV253488	single nucleotide variant	NM_001379081.2(FREM1):c.5004C>A (p.Ile1668=)	Oculotrichoanal syndrome [RCV000395089]\|not provided [RCV001651275]\|not specified [RCV000252135]	benign	9	14770660	14770660	Human	1	name
11547311	CV253489	single nucleotide variant	NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=)	Oculotrichoanal syndrome [RCV000354383]\|not provided [RCV001725156]\|not specified [RCV000247594]	benign	9	14775855	14775855	Human	1	name
11543557	CV253490	single nucleotide variant	NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=)	Oculotrichoanal syndrome [RCV000400941]\|not provided [RCV001675763]\|not specified [RCV000242610]	benign	9	14775861	14775861	Human	4	name
11547003	CV253492	single nucleotide variant	NM_001379081.2(FREM1):c.4617G>A (p.Ala1539=)	Oculotrichoanal syndrome [RCV000320265]\|not provided [RCV001725155]\|not specified [RCV000247196]	benign\|likely benign	9	14776029	14776029	Human	1	name
11543238	CV253493	single nucleotide variant	NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=)	Oculotrichoanal syndrome [RCV000400335]\|not provided [RCV001618480]\|not specified [RCV000242193]	benign	9	14801689	14801689	Human	1	name
329848219	CV2667838	single nucleotide variant	NM_001379081.2(FREM1):c.987A>T (p.Lys329Asn)	Inborn genetic diseases [RCV004978811]\|not provided [RCV003229405]	uncertain significance	9	14851449	14851449	Human	1	name
11641039	CV268146	single nucleotide variant	NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)	not provided [RCV000349900]	conflicting interpretations of pathogenicity\|uncertain significance	9	14747040	14747040	Human		name
401720662	CV2702030	single nucleotide variant	NM_001379081.2(FREM1):c.353T>G (p.Ile118Arg)	FREM1-related disorder [RCV004731522]\|Inborn genetic diseases [RCV003267305]	uncertain significance	9	14859461	14859461	Human	1	name , alternate_id
401773238	CV2709202	single nucleotide variant	NM_001379081.2(FREM1):c.668G>A (p.Cys223Tyr)	Inborn genetic diseases [RCV003262131]	uncertain significance	9	14857713	14857713	Human	1	name
11643807	CV272501	single nucleotide variant	NM_001379081.2(FREM1):c.382C>G (p.Leu128Val)	Inborn genetic diseases [RCV002518028]\|Oculotrichoanal syndrome [RCV002480035]\|not provided [RCV000400951]	uncertain significance	9	14859432	14859432	Human	4	name
401724095	CV2725138	single nucleotide variant	NM_001379081.2(FREM1):c.419A>G (p.Asn140Ser)	Inborn genetic diseases [RCV003268533]\|Oculotrichoanal syndrome [RCV005047510]	uncertain significance	9	14859395	14859395	Human	4	name
401901767	CV2804608	indel	NM_001379081.2(FREM1):c.5205-1_5209delinsTTT	FREM1-related disorder [RCV003393201]	likely pathogenic	9	14759897	14759902	Human		name , trait , alternate_id
405063737	CV2868564	single nucleotide variant	NM_001379081.2(FREM1):c.6144G>A (p.Val2048=)	FREM1-related disorder [RCV003954239]\|not provided [RCV003548090]	likely benign	9	14746463	14746463	Human		name , alternate_id
402496328	CV2875338	single nucleotide variant	NM_001379081.2(FREM1):c.6474G>A (p.Gly2158=)	FREM1-related disorder [RCV003946649]\|not provided [RCV003545458]	benign\|likely benign	9	14737462	14737462	Human		name , alternate_id
402496729	CV2875399	single nucleotide variant	NM_001379081.2(FREM1):c.3300C>T (p.Asn1100=)	not provided [RCV003545493]	likely benign	9	14805127	14805127	Human		name
405238674	CV2889174	single nucleotide variant	NM_001379081.2(FREM1):c.3600G>C (p.Gly1200=)	not provided [RCV003556905]	likely benign	9	14801746	14801746	Human		name
405181439	CV2909423	single nucleotide variant	NM_001379081.2(FREM1):c.4848C>T (p.Phe1616=)	not provided [RCV003564010]	likely benign	9	14775798	14775798	Human		name
402506742	CV2947804	single nucleotide variant	NM_001379081.2(FREM1):c.5892T>C (p.Thr1964=)	not provided [RCV003662136]	likely benign	9	14747381	14747381	Human		name
405140139	CV2961917	single nucleotide variant	NM_001379081.2(FREM1):c.4392A>C (p.Thr1464=)	not provided [RCV003673153]	likely benign	9	14784420	14784420	Human		name
405219532	CV2969438	single nucleotide variant	NM_001379081.2(FREM1):c.3399G>A (p.Leu1133=)	not provided [RCV003680468]	likely benign	9	14805028	14805028	Human		name
405235454	CV2976553	single nucleotide variant	NM_001379081.2(FREM1):c.4206C>A (p.Leu1402=)	not provided [RCV003683000]	likely benign	9	14784606	14784606	Human		name
405189635	CV2987893	single nucleotide variant	NM_001379081.2(FREM1):c.718T>C (p.Phe240Leu)	not provided [RCV003706348]	uncertain significance	9	14857663	14857663	Human		name
405026658	CV2999996	single nucleotide variant	NM_001379081.2(FREM1):c.4665C>G (p.Leu1555=)	not provided [RCV003695264]	likely benign	9	14775981	14775981	Human		name
405127208	CV3013776	single nucleotide variant	NM_001379081.2(FREM1):c.344A>T (p.Asp115Val)	not provided [RCV003701329]	uncertain significance	9	14859470	14859470	Human		name
405221102	CV3032280	single nucleotide variant	NM_001379081.2(FREM1):c.4326C>T (p.Ile1442=)	not provided [RCV003709978]	likely benign	9	14784486	14784486	Human		name
405145155	CV3052276	single nucleotide variant	NM_001379081.2(FREM1):c.3093C>T (p.Pro1031=)	FREM1-related disorder [RCV003981082]\|not provided [RCV003725991]	likely benign	9	14806842	14806842	Human		name , alternate_id
405245247	CV3055019	single nucleotide variant	NM_001379081.2(FREM1):c.3330G>A (p.Arg1110=)	FREM1-related disorder [RCV003948962]\|not provided [RCV003720238]	benign\|likely benign	9	14805097	14805097	Human		name , alternate_id
405190406	CV3069831	single nucleotide variant	NM_001379081.2(FREM1):c.4068C>T (p.Thr1356=)	FREM1-related disorder [RCV003981100]\|not provided [RCV003729666]	likely benign	9	14789028	14789028	Human		name , alternate_id
11608338	CV307811	single nucleotide variant	NM_001379081.2(FREM1):c.5916C>T (p.Ser1972=)	Oculotrichoanal syndrome [RCV000353995]	uncertain significance	9	14747357	14747357	Human	1	name
11605783	CV307813	single nucleotide variant	NM_001379081.2(FREM1):c.5814T>A (p.Val1938=)	Oculotrichoanal syndrome [RCV000323514]\|not provided [RCV000956706]	benign\|likely benign	9	14747711	14747711	Human	1	name
11650795	CV307817	single nucleotide variant	NM_001379081.2(FREM1):c.4923C>T (p.Leu1641=)	Oculotrichoanal syndrome [RCV000295262]	uncertain significance	9	14770741	14770741	Human	1	name
11606272	CV307828	single nucleotide variant	NM_001379081.2(FREM1):c.3048G>A (p.Thr1016=)	Oculotrichoanal syndrome [RCV000329717]\|not provided [RCV000975206]	benign\|likely benign	9	14807980	14807980	Human	1	name
11659457	CV307856	single nucleotide variant	NM_001379081.2(FREM1):c.605A>G (p.Gln202Arg)	Oculotrichoanal syndrome [RCV000358160]	uncertain significance	9	14859209	14859209	Human	1	name
405237051	CV3080701	single nucleotide variant	NM_001379081.2(FREM1):c.4692A>G (p.Gln1564=)	FREM1-related disorder [RCV004753720]\|not provided [RCV003736083]	likely benign	9	14775954	14775954	Human		name , alternate_id
405118476	CV3116091	single nucleotide variant	NM_001379081.2(FREM1):c.4686A>G (p.Leu1562=)	not provided [RCV003814581]	likely benign	9	14775960	14775960	Human		name
405208594	CV3117193	single nucleotide variant	NM_001379081.2(FREM1):c.4665C>T (p.Leu1555=)	not provided [RCV003822980]	likely benign	9	14775981	14775981	Human		name
405191869	CV3118083	single nucleotide variant	NM_001379081.2(FREM1):c.5808C>T (p.Ser1936=)	not provided [RCV003820993]	likely benign	9	14747717	14747717	Human		name
405179910	CV3119806	single nucleotide variant	NM_001379081.2(FREM1):c.5373C>T (p.Thr1791=)	not provided [RCV003819899]	likely benign	9	14756408	14756408	Human		name
405180388	CV3119849	single nucleotide variant	NM_001379081.2(FREM1):c.4962C>T (p.Arg1654=)	not provided [RCV003819942]	likely benign	9	14770702	14770702	Human		name
11607628	CV312107	single nucleotide variant	NM_001379081.2(FREM1):c.6465A>G (p.Gln2155=)	Oculotrichoanal syndrome [RCV000345719]\|not provided [RCV000963230]	likely benign\|uncertain significance	9	14737471	14737471	Human	1	name
11605271	CV312109	single nucleotide variant	NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=)	FREM1-related disorder [RCV003897815]\|Oculotrichoanal syndrome [RCV000317894]\|not provided [RCV003430966]	likely benign\|uncertain significance	9	14747317	14747317	Human	1	name , alternate_id
404983612	CV3121626	single nucleotide variant	NM_001379081.2(FREM1):c.5403C>T (p.Asp1801=)	not provided [RCV003826425]	likely benign	9	14756378	14756378	Human		name
405052633	CV3138379	single nucleotide variant	NM_001379081.2(FREM1):c.6222C>G (p.Thr2074=)	not provided [RCV003832223]	likely benign	9	14746385	14746385	Human		name
405233850	CV3145112	single nucleotide variant	NM_001379081.2(FREM1):c.5556A>G (p.Gly1852=)	not provided [RCV003853369]	likely pathogenic	9	14750128	14750128	Human		name
405161498	CV3153013	single nucleotide variant	NM_001379081.2(FREM1):c.6039C>T (p.Cys2013=)	not provided [RCV003840748]	likely benign	9	14747022	14747022	Human		name
405240375	CV3166153	single nucleotide variant	NM_001379081.2(FREM1):c.3339G>A (p.Arg1113=)	not provided [RCV003867165]	likely benign	9	14805088	14805088	Human		name
405088826	CV3167750	single nucleotide variant	NM_001379081.2(FREM1):c.6408T>C (p.Asn2136=)	not provided [RCV003852140]	likely benign	9	14737528	14737528	Human		name
11604427	CV317740	single nucleotide variant	NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=)	Oculotrichoanal syndrome [RCV000309501]\|not provided [RCV000889991]	benign\|likely benign\|uncertain significance	9	14737408	14737408	Human	1	name
11603056	CV317760	single nucleotide variant	NM_001379081.2(FREM1):c.4377T>C (p.Asp1459=)	Oculotrichoanal syndrome [RCV000296191]\|not provided [RCV000888120]	benign\|uncertain significance	9	14784435	14784435	Human	1	name
11603928	CV317775	single nucleotide variant	NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=)	FREM1-related disorder [RCV003972545]\|Oculotrichoanal syndrome [RCV000304694]\|Oculotrichoanal syndrome [RCV002488826]\|not provided [RCV003430967]	likely benign\|uncertain significance	9	14797581	14797581	Human	3	name , alternate_id
11607233	CV317777	single nucleotide variant	NM_001379081.2(FREM1):c.3708G>A (p.Thr1236=)	Oculotrichoanal syndrome [RCV000340827]\|not provided [RCV000961903]	benign\|likely benign	9	14797629	14797629	Human	1	name
11651751	CV317812	single nucleotide variant	NM_001379081.2(FREM1):c.884C>T (p.Pro295Leu)	Oculotrichoanal syndrome [RCV000300876]	uncertain significance	9	14851552	14851552	Human	1	name
11599450	CV317824	single nucleotide variant	NM_001379081.2(FREM1):c.553C>T (p.His185Tyr)	Inborn genetic diseases [RCV004619282]\|Oculotrichoanal syndrome [RCV000265857]\|Oculotrichoanal syndrome [RCV005044601]	uncertain significance	9	14859261	14859261	Human	4	name
11601620	CV318270	single nucleotide variant	NM_001379081.2(FREM1):c.5466T>C (p.Asp1822=)	FREM1-related disorder [RCV003932517]\|Oculotrichoanal syndrome [RCV000283748]\|not provided [RCV000956707]	benign\|uncertain significance	9	14750218	14750218	Human	1	name , alternate_id
11606156	CV318313	single nucleotide variant	NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr)	Inborn genetic diseases [RCV002523770]\|Oculotrichoanal syndrome [RCV000328032]\|Oculotrichoanal syndrome [RCV002481258]\|not provided [RCV000999143]	uncertain significance	9	14859264	14859264	Human	4	name
11609283	CV318317	single nucleotide variant	NM_001379081.2(FREM1):c.533C>T (p.Ala178Val)	Inborn genetic diseases [RCV002523771]\|Oculotrichoanal syndrome [RCV000366397]\|not provided [RCV001850935]	likely benign\|uncertain significance	9	14859281	14859281	Human	2	name
404985956	CV3183829	single nucleotide variant	NM_001379081.2(FREM1):c.4056A>G (p.Arg1352=)	not provided [RCV003881106]	likely benign	9	14789040	14789040	Human		name
405277858	CV3196159	single nucleotide variant	NM_001379081.2(FREM1):c.6210G>A (p.Glu2070=)	FREM1-related disorder [RCV003904675]	likely benign	9	14746397	14746397	Human		name , trait , alternate_id
405284165	CV3196670	single nucleotide variant	NM_001379081.2(FREM1):c.3018G>A (p.Ala1006=)	FREM1-related disorder [RCV003979576]	likely benign	9	14808010	14808010	Human		name , trait , alternate_id
405272923	CV3197569	single nucleotide variant	NM_001379081.2(FREM1):c.5496T>C (p.Pro1832=)	FREM1-related disorder [RCV003901537]	likely benign	9	14750188	14750188	Human		name , trait , alternate_id
405260405	CV3204068	single nucleotide variant	NM_001379081.2(FREM1):c.4644G>A (p.Gln1548=)	FREM1-related disorder [RCV003943942]\|Oculotrichoanal syndrome [RCV005040617]	likely benign\|uncertain significance	9	14776002	14776002	Human	3	name , alternate_id
405260842	CV3204391	single nucleotide variant	NM_001379081.2(FREM1):c.6348C>T (p.Asn2116=)	FREM1-related disorder [RCV003944217]\|not provided [RCV005064841]	likely benign	9	14737588	14737588	Human		name , alternate_id
405278961	CV3220177	single nucleotide variant	NM_001379081.2(FREM1):c.4326C>A (p.Ile1442=)	FREM1-related disorder [RCV003954792]	likely benign	9	14784486	14784486	Human		name , trait , alternate_id
405763171	CV3250905	single nucleotide variant	NM_001379081.2(FREM1):c.373G>T (p.Val125Phe)	Inborn genetic diseases [RCV004394611]\|Oculotrichoanal syndrome [RCV005051427]	uncertain significance	9	14859441	14859441	Human	4	name
405763178	CV3250906	single nucleotide variant	NM_001379081.2(FREM1):c.383T>C (p.Leu128Pro)	Inborn genetic diseases [RCV004394612]	uncertain significance	9	14859431	14859431	Human	1	name
405763210	CV3250911	single nucleotide variant	NM_001379081.2(FREM1):c.443A>G (p.Asn148Ser)	Inborn genetic diseases [RCV004394617]	uncertain significance	9	14859371	14859371	Human	1	name
405763240	CV3250916	single nucleotide variant	NM_001379081.2(FREM1):c.596G>A (p.Arg199His)	Inborn genetic diseases [RCV004394622]\|Oculotrichoanal syndrome [RCV005040644]	uncertain significance	9	14859218	14859218	Human	4	name
405763274	CV3250922	single nucleotide variant	NM_001379081.2(FREM1):c.878A>G (p.Gln293Arg)	Inborn genetic diseases [RCV004394628]	uncertain significance	9	14851558	14851558	Human	1	name
405763279	CV3250923	single nucleotide variant	NM_001379081.2(FREM1):c.980C>G (p.Thr327Ser)	Inborn genetic diseases [RCV004394629]	uncertain significance	9	14851456	14851456	Human	1	name
407427947	CV3412245	single nucleotide variant	NM_001379081.2(FREM1):c.883C>G (p.Pro295Ala)	Inborn genetic diseases [RCV005325908]\|not provided [RCV004592416]	uncertain significance	9	14851553	14851553	Human	1	name
407494763	CV3442918	single nucleotide variant	NM_001379081.2(FREM1):c.595C>T (p.Arg199Cys)	Inborn genetic diseases [RCV004621410]\|Oculotrichoanal syndrome [RCV005040728]	uncertain significance	9	14859219	14859219	Human	4	name
407574691	CV3495440	single nucleotide variant	NM_001379081.2(FREM1):c.346A>G (p.Thr116Ala)	not provided [RCV004720196]	uncertain significance	9	14859468	14859468	Human		name
407503247	CV3495789	deletion	NM_001379081.2(FREM1):c.2750del (p.Thr917fs)	not provided [RCV004697629]	uncertain significance	9	14812955	14812955	Human		name
408380080	CV3510649	single nucleotide variant	NM_001379081.2(FREM1):c.736C>T (p.Arg246Cys)	FREM1-related disorder [RCV004753938]	uncertain significance	9	14857645	14857645	Human		name , trait , alternate_id
408380144	CV3511073	single nucleotide variant	NM_001379081.2(FREM1):c.3600G>T (p.Gly1200=)	FREM1-related disorder [RCV004753968]\|not provided [RCV005103755]	likely benign	9	14801746	14801746	Human		name , alternate_id
596946010	CV3548173	single nucleotide variant	NM_001379081.2(FREM1):c.3576C>T (p.Arg1192=)	not provided [RCV004809504]	likely benign	9	14801770	14801770	Human		name
597670037	CV3669996	single nucleotide variant	NM_001379081.2(FREM1):c.926A>C (p.Gln309Pro)	Inborn genetic diseases [RCV004980169]	uncertain significance	9	14851510	14851510	Human	1	name
597670071	CV3670004	single nucleotide variant	NM_001379081.2(FREM1):c.904G>A (p.Val302Met)	Inborn genetic diseases [RCV004980175]	likely benign	9	14851532	14851532	Human	1	name
597691244	CV3723022	deletion	NM_001379081.2(FREM1):c.1934del (p.Pro645fs)	Oculotrichoanal syndrome [RCV005046362]	likely pathogenic	9	14824940	14824940	Human	3	name
597691267	CV3723024	duplication	NM_001379081.2(FREM1):c.1912dup (p.Asp638fs)	Oculotrichoanal syndrome [RCV005046364]	likely pathogenic	9	14824961	14824962	Human	3	name
597691363	CV3723034	deletion	NM_001379081.2(FREM1):c.1441del (p.Val481fs)	Oculotrichoanal syndrome [RCV005046372]	likely pathogenic	9	14842613	14842613	Human	3	name
597691467	CV3723051	single nucleotide variant	NM_001379081.2(FREM1):c.983C>T (p.Pro328Leu)	Oculotrichoanal syndrome [RCV005046382]	uncertain significance	9	14851453	14851453	Human	3	name
597715133	CV3723052	single nucleotide variant	NM_001379081.2(FREM1):c.899T>C (p.Met300Thr)	Oculotrichoanal syndrome [RCV005049084]	uncertain significance	9	14851537	14851537	Human	3	name
597715148	CV3723053	single nucleotide variant	NM_001379081.2(FREM1):c.856A>T (p.Ile286Phe)	Oculotrichoanal syndrome [RCV005049085]	uncertain significance	9	14851580	14851580	Human	3	name
597691479	CV3723054	single nucleotide variant	NM_001379081.2(FREM1):c.790C>G (p.Leu264Val)	Oculotrichoanal syndrome [RCV005046383]	uncertain significance	9	14857591	14857591	Human	3	name
597715161	CV3723055	single nucleotide variant	NM_001379081.2(FREM1):c.747T>A (p.His249Gln)	Oculotrichoanal syndrome [RCV005049086]	uncertain significance	9	14857634	14857634	Human	3	name
597691489	CV3723056	single nucleotide variant	NM_001379081.2(FREM1):c.727A>T (p.Met243Leu)	Oculotrichoanal syndrome [RCV005046384]	uncertain significance	9	14857654	14857654	Human	3	name
597691514	CV3723057	single nucleotide variant	NM_001379081.2(FREM1):c.677G>C (p.Gly226Ala)	Oculotrichoanal syndrome [RCV005046386]	uncertain significance	9	14857704	14857704	Human	3	name
597715172	CV3723058	single nucleotide variant	NM_001379081.2(FREM1):c.655C>T (p.Pro219Ser)	Oculotrichoanal syndrome [RCV005049087]	uncertain significance	9	14857726	14857726	Human	3	name
597691544	CV3723061	single nucleotide variant	NM_001379081.2(FREM1):c.593C>G (p.Pro198Arg)	Oculotrichoanal syndrome [RCV005046389]	uncertain significance	9	14859221	14859221	Human	3	name
597691556	CV3723062	single nucleotide variant	NM_001379081.2(FREM1):c.508G>T (p.Glu170Ter)	Oculotrichoanal syndrome [RCV005046390]	likely pathogenic	9	14859306	14859306	Human	3	name
597691569	CV3723063	single nucleotide variant	NM_001379081.2(FREM1):c.506T>C (p.Leu169Pro)	Oculotrichoanal syndrome [RCV005046391]	uncertain significance	9	14859308	14859308	Human	3	name
597691577	CV3723064	single nucleotide variant	NM_001379081.2(FREM1):c.500C>G (p.Ala167Gly)	Oculotrichoanal syndrome [RCV005046392]	uncertain significance	9	14859314	14859314	Human	3	name
597715183	CV3723065	single nucleotide variant	NM_001379081.2(FREM1):c.495G>C (p.Arg165Ser)	Oculotrichoanal syndrome [RCV005049088]	uncertain significance	9	14859319	14859319	Human	3	name
597715194	CV3723066	single nucleotide variant	NM_001379081.2(FREM1):c.491A>G (p.Asp164Gly)	Oculotrichoanal syndrome [RCV005049089]	uncertain significance	9	14859323	14859323	Human	3	name
597691588	CV3723067	single nucleotide variant	NM_001379081.2(FREM1):c.484G>T (p.Asp162Tyr)	Oculotrichoanal syndrome [RCV005046393]	uncertain significance	9	14859330	14859330	Human	3	name
597691598	CV3723068	single nucleotide variant	NM_001379081.2(FREM1):c.484G>A (p.Asp162Asn)	Oculotrichoanal syndrome [RCV005046394]	uncertain significance	9	14859330	14859330	Human	3	name
597691612	CV3723069	single nucleotide variant	NM_001379081.2(FREM1):c.472C>A (p.Leu158Met)	Oculotrichoanal syndrome [RCV005046395]	uncertain significance	9	14859342	14859342	Human	3	name
597715205	CV3723070	single nucleotide variant	NM_001379081.2(FREM1):c.458C>T (p.Ala153Val)	Oculotrichoanal syndrome [RCV005049090]	uncertain significance	9	14859356	14859356	Human	3	name
597691624	CV3723071	single nucleotide variant	NM_001379081.2(FREM1):c.357A>C (p.Glu119Asp)	Oculotrichoanal syndrome [RCV005046396]	uncertain significance	9	14859457	14859457	Human	3	name
597689786	CV3726301	single nucleotide variant	NM_001379081.2(FREM1):c.5976G>A (p.Val1992=)	Oculotrichoanal syndrome [RCV005046206]	uncertain significance	9	14747297	14747297	Human	3	name
597689451	CV3726325	single nucleotide variant	NM_001379081.2(FREM1):c.5397G>A (p.Gln1799=)	Oculotrichoanal syndrome [RCV005046224]	uncertain significance	9	14756384	14756384	Human	3	name
597714700	CV3726333	single nucleotide variant	NM_001379081.2(FREM1):c.5184G>T (p.Gly1728=)	Oculotrichoanal syndrome [RCV005049045]\|not provided [RCV005063341]	uncertain significance	9	14769744	14769744	Human	3	name
597690199	CV3726379	single nucleotide variant	NM_001379081.2(FREM1):c.3900A>T (p.Ser1300=)	Oculotrichoanal syndrome [RCV005046267]	uncertain significance	9	14792824	14792824	Human	3	name
597714839	CV3726389	single nucleotide variant	NM_001379081.2(FREM1):c.3750A>C (p.Thr1250=)	Oculotrichoanal syndrome [RCV005049058]	uncertain significance	9	14797587	14797587	Human	3	name
597690450	CV3726407	single nucleotide variant	NM_001379081.2(FREM1):c.3480G>A (p.Glu1160=)	Oculotrichoanal syndrome [RCV005046291]	likely benign	9	14801866	14801866	Human	3	name
597714899	CV3726417	single nucleotide variant	NM_001379081.2(FREM1):c.3366G>A (p.Thr1122=)	Oculotrichoanal syndrome [RCV005049063]	uncertain significance	9	14805061	14805061	Human	3	name
597714910	CV3726419	single nucleotide variant	NM_001379081.2(FREM1):c.3324G>A (p.Gln1108=)	Oculotrichoanal syndrome [RCV005049064]	uncertain significance	9	14805103	14805103	Human	3	name
597690892	CV3726456	deletion	NM_001379081.2(FREM1):c.2687del (p.Met896fs)	Oculotrichoanal syndrome [RCV005046330]	likely pathogenic	9	14813018	14813018	Human	3	name
12849408	CV372910	single nucleotide variant	NM_001379081.2(FREM1):c.454C>T (p.Gln152Ter)	not provided [RCV000429460]	likely pathogenic	9	14859360	14859360	Human		name
597845236	CV3736235	single nucleotide variant	NM_001379081.2(FREM1):c.5289T>C (p.Ile1763=)	not provided [RCV005065583]	likely benign	9	14759817	14759817	Human		name
597922458	CV3738507	single nucleotide variant	NM_001379081.2(FREM1):c.5778C>A (p.Thr1926=)	not provided [RCV005074914]	likely benign	9	14748419	14748419	Human		name
597834631	CV3739527	single nucleotide variant	NM_001379081.2(FREM1):c.6090G>C (p.Leu2030=)	not provided [RCV005063746]	likely benign	9	14746971	14746971	Human		name
597886873	CV3741863	single nucleotide variant	NM_001379081.2(FREM1):c.766A>G (p.Asn256Asp)	not provided [RCV005070583]	uncertain significance	9	14857615	14857615	Human		name
597911519	CV3745623	single nucleotide variant	NM_001379081.2(FREM1):c.3261T>A (p.Ile1087=)	not provided [RCV005073624]	likely benign	9	14806674	14806674	Human		name
597841176	CV3752761	single nucleotide variant	NM_001379081.2(FREM1):c.5784G>A (p.Gly1928=)	not provided [RCV005086490]	likely benign	9	14748413	14748413	Human		name
597836617	CV3757717	single nucleotide variant	NM_001379081.2(FREM1):c.5190G>A (p.Ser1730=)	not provided [RCV005085731]	likely benign	9	14769738	14769738	Human		name
597889454	CV3762744	single nucleotide variant	NM_001379081.2(FREM1):c.4959C>G (p.Ser1653=)	not provided [RCV005110517]	likely benign	9	14770705	14770705	Human		name
597893183	CV3763438	single nucleotide variant	NM_001379081.2(FREM1):c.4470C>T (p.Thr1490=)	not provided [RCV005111018]	likely benign	9	14776176	14776176	Human		name
597868537	CV3783955	single nucleotide variant	NM_001379081.2(FREM1):c.583C>G (p.Pro195Ala)	Inborn genetic diseases [RCV005336086]\|not provided [RCV005122258]	uncertain significance	9	14859231	14859231	Human	1	name
597936971	CV3807749	single nucleotide variant	NM_001379081.2(FREM1):c.3003T>G (p.Ser1001=)	not provided [RCV005158128]	likely benign	9	14808025	14808025	Human		name
597954652	CV3809301	single nucleotide variant	NM_001379081.2(FREM1):c.4905C>G (p.Ser1635=)	not provided [RCV005162025]	likely benign	9	14770759	14770759	Human		name
597931624	CV3827127	deletion	NM_001379081.2(FREM1):c.2557del (p.Asp853fs)	not provided [RCV005157140]	pathogenic	9	14816861	14816861	Human		name
597835425	CV3828215	single nucleotide variant	NM_001379081.2(FREM1):c.5485C>T (p.Leu1829=)	not provided [RCV005171107]	likely benign	9	14750199	14750199	Human		name
597884200	CV3834876	single nucleotide variant	NM_001379081.2(FREM1):c.5574A>G (p.Ser1858=)	not provided [RCV005178600]	likely benign	9	14748623	14748623	Human		name
597956663	CV3838280	single nucleotide variant	NM_001379081.2(FREM1):c.6456T>G (p.Val2152=)	not provided [RCV005191655]	likely benign	9	14737480	14737480	Human		name
597923600	CV3839915	single nucleotide variant	NM_001379081.2(FREM1):c.757C>A (p.Pro253Thr)	not provided [RCV005184654]	uncertain significance	9	14857624	14857624	Human		name
597918499	CV3842162	single nucleotide variant	NM_001379081.2(FREM1):c.3603T>C (p.Phe1201=)	not provided [RCV005183837]	likely benign	9	14801743	14801743	Human		name
597935323	CV3845219	single nucleotide variant	NM_001379081.2(FREM1):c.3219C>T (p.Leu1073=)	not provided [RCV005186532]	likely benign	9	14806716	14806716	Human		name
598125820	CV3883284	single nucleotide variant	NM_001379081.2(FREM1):c.741T>G (p.Tyr247Ter)	Oculotrichoanal syndrome [RCV005233159]	likely pathogenic	9	14857640	14857640	Human	2	name
598230271	CV3970137	single nucleotide variant	NM_001379081.2(FREM1):c.879G>T (p.Gln293His)	Inborn genetic diseases [RCV005342222]	uncertain significance	9	14851557	14851557	Human	1	name
598230305	CV3970144	single nucleotide variant	NM_001379081.2(FREM1):c.820G>T (p.Val274Leu)	Inborn genetic diseases [RCV005342228]	uncertain significance	9	14857561	14857561	Human	1	name
598230341	CV3970152	single nucleotide variant	NM_001379081.2(FREM1):c.695G>T (p.Ser232Ile)	Inborn genetic diseases [RCV005342235]	uncertain significance	9	14857686	14857686	Human	1	name
617154090	CV4022253	single nucleotide variant	NM_001379081.2(FREM1):c.391G>C (p.Asp131His)	not provided [RCV005429609]	uncertain significance	9	14859423	14859423	Human		name
12907483	CV413788	single nucleotide variant	NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg)	Inborn genetic diseases [RCV004975572]\|Oculotrichoanal syndrome [RCV000764828]\|not provided [RCV000487534]	uncertain significance	9	14859236	14859236	Human	4	name
13833365	CV584597	single nucleotide variant	NM_001379081.2(FREM1):c.3030G>A (p.Val1010=)	not provided [RCV000728605]	uncertain significance	9	14807998	14807998	Human		name
15146150	CV711907	single nucleotide variant	NM_001379081.2(FREM1):c.635T>G (p.Leu212Arg)	Oculotrichoanal syndrome [RCV001166247]\|not provided [RCV000967117]	benign	9	14857746	14857746	Human	1	name
15191451	CV723507	single nucleotide variant	NM_001379081.2(FREM1):c.6231G>T (p.Ala2077=)	Oculotrichoanal syndrome [RCV001165968]\|not provided [RCV000888383]	likely benign\|uncertain significance	9	14746376	14746376	Human	1	name
15198340	CV723510	single nucleotide variant	NM_001379081.2(FREM1):c.3789C>T (p.Thr1263=)	not provided [RCV000890328]	likely benign	9	14797548	14797548	Human		name
15169482	CV723513	single nucleotide variant	NM_001379081.2(FREM1):c.3114C>G (p.Gly1038=)	not provided [RCV000883275]	likely benign	9	14806821	14806821	Human		name
15150889	CV737074	single nucleotide variant	NM_001379081.2(FREM1):c.6279A>G (p.Val2093=)	Oculotrichoanal syndrome [RCV001165966]\|Oculotrichoanal syndrome [RCV002495451]\|not provided [RCV000901249]	benign\|likely benign	9	14740210	14740210	Human	3	name
15173549	CV737075	single nucleotide variant	NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=)	BNAR syndrome [RCV005055394]\|Oculotrichoanal syndrome [RCV001165967]\|not provided [RCV000905863]	benign\|likely benign\|uncertain significance	9	14740231	14740231	Human	2	name
15148209	CV737077	single nucleotide variant	NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=)	FREM1-related disorder [RCV003975729]\|Oculotrichoanal syndrome [RCV002487966]\|not provided [RCV000900672]	likely benign	9	14759790	14759790	Human	3	name , alternate_id
15191262	CV737078	single nucleotide variant	NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=)	Oculotrichoanal syndrome [RCV002502729]\|not provided [RCV000910194]	likely benign	9	14770669	14770669	Human	3	name
15140118	CV737080	single nucleotide variant	NM_001379081.2(FREM1):c.3573A>G (p.Pro1191=)	not provided [RCV000899261]	likely benign	9	14801773	14801773	Human		name
15115392	CV737081	single nucleotide variant	NM_001379081.2(FREM1):c.3552G>A (p.Leu1184=)	not provided [RCV000895016]	likely benign	9	14801794	14801794	Human		name
15101797	CV751629	single nucleotide variant	NM_001379081.2(FREM1):c.6222C>T (p.Thr2074=)	not provided [RCV000914852]	likely benign	9	14746385	14746385	Human		name
15099235	CV751630	single nucleotide variant	NM_001379081.2(FREM1):c.5448C>T (p.Asp1816=)	Oculotrichoanal syndrome [RCV001168158]\|not provided [RCV000914420]	likely benign\|uncertain significance	9	14750236	14750236	Human	1	name
15130038	CV751631	single nucleotide variant	NM_001379081.2(FREM1):c.5244C>G (p.Thr1748=)	not provided [RCV000919935]	likely benign	9	14759862	14759862	Human		name
15195374	CV751632	single nucleotide variant	NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=)	Oculotrichoanal syndrome [RCV002479050]\|not provided [RCV000911399]	likely benign	9	14770797	14770797	Human	3	name
15130044	CV751633	single nucleotide variant	NM_001379081.2(FREM1):c.4599C>T (p.Thr1533=)	not provided [RCV000919936]	likely benign	9	14776047	14776047	Human		name
15201220	CV751634	single nucleotide variant	NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=)	FREM1-related disorder [RCV003902916]\|Oculotrichoanal syndrome [RCV002505347]\|not provided [RCV000913075]	benign\|likely benign	9	14776083	14776083	Human	3	name , alternate_id
15203269	CV751635	single nucleotide variant	NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=)	Oculotrichoanal syndrome [RCV002495512]\|not provided [RCV000913819]	likely benign	9	14805049	14805049	Human	3	name
15116077	CV751636	single nucleotide variant	NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)	FREM1-related disorder [RCV003950849]\|Inborn genetic diseases [RCV004029414]\|not provided [RCV000917561]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	14857586	14857586	Human	1	name , alternate_id
15113720	CV767363	single nucleotide variant	NM_001379081.2(FREM1):c.4542G>C (p.Gly1514=)	not provided [RCV000939179]	likely benign	9	14776104	14776104	Human		name
15115610	CV783387	single nucleotide variant	NM_001379081.2(FREM1):c.5670T>C (p.Phe1890=)	Oculotrichoanal syndrome [RCV001168157]\|not provided [RCV000978439]	likely benign\|uncertain significance	9	14748527	14748527	Human	1	name
28875857	CV901616	single nucleotide variant	NM_001379081.2(FREM1):c.6363T>C (p.Ala2121=)	Oculotrichoanal syndrome [RCV001165963]	uncertain significance	9	14737573	14737573	Human	1	name
28876046	CV901623	single nucleotide variant	NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=)	Oculotrichoanal syndrome [RCV001166027]\|Oculotrichoanal syndrome [RCV002497595]\|not provided [RCV002068012]	benign\|likely benign	9	14770723	14770723	Human	3	name
28881348	CV901625	single nucleotide variant	NM_001379081.2(FREM1):c.4845A>G (p.Leu1615=)	Oculotrichoanal syndrome [RCV001167599]	uncertain significance	9	14775801	14775801	Human	1	name
28883502	CV901630	single nucleotide variant	NM_001379081.2(FREM1):c.4626C>T (p.Leu1542=)	FREM1-related disorder [RCV003898163]\|Oculotrichoanal syndrome [RCV001168229]\|not provided [RCV005093707]	benign\|likely benign\|uncertain significance	9	14776020	14776020	Human	1	name , alternate_id
28886141	CV901631	single nucleotide variant	NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=)	Oculotrichoanal syndrome [RCV001168975]\|Oculotrichoanal syndrome [RCV002480580]\|not provided [RCV003558738]	likely benign\|uncertain significance	9	14776146	14776146	Human	3	name
28876221	CV901636	single nucleotide variant	NM_001379081.2(FREM1):c.4002T>C (p.Pro1334=)	Oculotrichoanal syndrome [RCV001166082]	uncertain significance	9	14789094	14789094	Human	1	name
28877815	CV901638	single nucleotide variant	NM_001379081.2(FREM1):c.3813T>A (p.Val1271=)	Oculotrichoanal syndrome [RCV001166554]\|Oculotrichoanal syndrome [RCV002483927]\|not provided [RCV002557432]	likely benign\|uncertain significance	9	14797524	14797524	Human	3	name
38598699	CV901662	single nucleotide variant	NM_001379081.2(FREM1):c.922G>C (p.Asp308His)	Oculotrichoanal syndrome [RCV001253981]\|Oculotrichoanal syndrome [RCV002485993]	uncertain significance	9	14851514	14851514	Human	3	name
38598616	CV901663	single nucleotide variant	NM_001379081.2(FREM1):c.916G>A (p.Glu306Lys)	Oculotrichoanal syndrome [RCV001253889]	uncertain significance	9	14851520	14851520	Human	1	name
38598617	CV901664	single nucleotide variant	NM_001379081.2(FREM1):c.889G>T (p.Ala297Ser)	Oculotrichoanal syndrome [RCV001253890]	uncertain significance	9	14851547	14851547	Human	1	name
28878517	CV901666	single nucleotide variant	NM_001379081.2(FREM1):c.544C>G (p.Leu182Val)	Oculotrichoanal syndrome [RCV001166769]\|Oculotrichoanal syndrome [RCV002483928]\|not provided [RCV002558635]	uncertain significance	9	14859270	14859270	Human	3	name
28878522	CV901667	single nucleotide variant	NM_001379081.2(FREM1):c.517G>A (p.Val173Ile)	Inborn genetic diseases [RCV005340650]\|Oculotrichoanal syndrome [RCV001166770]\|Oculotrichoanal syndrome [RCV005039990]	uncertain significance	9	14859297	14859297	Human	4	name
126726021	CV1017180	single nucleotide variant	NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile)	BNAR syndrome [RCV001331737]\|Oculotrichoanal syndrome [RCV002493726]\|not provided [RCV001572686]	uncertain significance	9	14824832	14824832	Human	3	name
126726018	CV1017181	single nucleotide variant	NM_001379081.2(FREM1):c.1786A>G (p.Ile596Val)	BNAR syndrome [RCV001331736]	uncertain significance	9	14841542	14841542	Human	1	name
126910311	CV1037927	single nucleotide variant	NM_001379081.2(FREM1):c.2872G>T (p.Ala958Ser)	Inborn genetic diseases [RCV005340831]\|not provided [RCV001354512]	uncertain significance	9	14812833	14812833	Human	1	name
150438989	CV1221246	insertion	NM_001379081.2(FREM1):c.6255-119_6255-118insC	not provided [RCV001609940]	benign	9	14740352	14740353	Human		name
150492918	CV1274819	single nucleotide variant	NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu)	not provided [RCV001702138]	uncertain significance	9	14819321	14819321	Human		name
150549194	CV1295012	single nucleotide variant	NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile)	Inborn genetic diseases [RCV002543977]\|Oculotrichoanal syndrome [RCV002496083]\|not provided [RCV001764973]	uncertain significance	9	14845996	14845996	Human	4	name
150549634	CV1299567	single nucleotide variant	NM_001379081.2(FREM1):c.2647C>T (p.Pro883Ser)	not provided [RCV001752493]	uncertain significance	9	14813058	14813058	Human		name
150544267	CV1313235	duplication	NM_001379081.2(FREM1):c.4375dup (p.Asp1459fs)	not provided [RCV001783314]	pathogenic	9	14784436	14784437	Human		name
150540575	CV1314700	single nucleotide variant	NM_001379081.2(FREM1):c.1288C>T (p.Arg430Ter)	not provided [RCV001781133]	pathogenic\|likely pathogenic	9	14846065	14846065	Human		name
150540576	CV1314701	deletion	NM_001379081.2(FREM1):c.4629del (p.Phe1544fs)	not provided [RCV001781134]	likely pathogenic	9	14776017	14776017	Human		name
151829282	CV1372144	single nucleotide variant	NM_001379081.2(FREM1):c.2106G>A (p.Met702Ile)	not provided [RCV001955518]	uncertain significance	9	14824088	14824088	Human		name
151805493	CV1427147	single nucleotide variant	NM_001379081.2(FREM1):c.1853A>G (p.His618Arg)	Inborn genetic diseases [RCV003164205]\|Oculotrichoanal syndrome [RCV005040450]\|not provided [RCV001899460]	uncertain significance	9	14841475	14841475	Human	4	name
151759668	CV1499841	single nucleotide variant	NM_001379081.2(FREM1):c.1166T>C (p.Val389Ala)	not provided [RCV001895157]	uncertain significance	9	14848760	14848760	Human		name
152054136	CV1553749	single nucleotide variant	NM_001379081.2(FREM1):c.1520G>A (p.Arg507His)	not provided [RCV002146031]	likely benign\|conflicting interpretations of pathogenicity	9	14842534	14842534	Human		name
8595579	CV17028	single nucleotide variant	NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp)	BNAR syndrome [RCV000002066]\|Oculotrichoanal syndrome [RCV003987307]\|Oculotrichoanal syndrome [RCV005041970]\|not provided [RCV000059637]	pathogenic\|uncertain significance\|not provided	9	14824929	14824929	Human	3	name
155734542	CV1781160	single nucleotide variant	NM_001379081.2(FREM1):c.1465G>A (p.Asp489Asn)	FREM1-related disorder [RCV004753554]\|Inborn genetic diseases [RCV003250502]\|not provided [RCV002308949]	uncertain significance	9	14842589	14842589	Human	1	name , alternate_id
156207852	CV1874603	single nucleotide variant	NM_001379081.2(FREM1):c.1565C>T (p.Pro522Leu)	Inborn genetic diseases [RCV004978500]\|Oculotrichoanal syndrome [RCV005045200]\|not provided [RCV003058411]	uncertain significance	9	14842489	14842489	Human	4	name
156062714	CV1877758	single nucleotide variant	NM_001379081.2(FREM1):c.1157A>C (p.Glu386Ala)	not provided [RCV003037316]	uncertain significance	9	14848769	14848769	Human		name
156387730	CV1888189	single nucleotide variant	NM_001379081.2(FREM1):c.2764G>A (p.Asp922Asn)	not provided [RCV003067700]	uncertain significance	9	14812941	14812941	Human		name
155969037	CV1888809	single nucleotide variant	NM_001379081.2(FREM1):c.1019C>T (p.Pro340Leu)	not provided [RCV003075084]	uncertain significance	9	14851417	14851417	Human		name
156318392	CV1897633	single nucleotide variant	NM_001379081.2(FREM1):c.1796G>A (p.Arg599His)	Inborn genetic diseases [RCV005333506]\|Oculotrichoanal syndrome [RCV005050738]\|not provided [RCV002579087]	uncertain significance	9	14841532	14841532	Human	4	name
156362454	CV1899133	single nucleotide variant	NM_001379081.2(FREM1):c.1240C>T (p.Pro414Ser)	Oculotrichoanal syndrome [RCV005045281]\|not provided [RCV003091802]	uncertain significance	9	14848686	14848686	Human	3	name
155929309	CV1912520	single nucleotide variant	NM_001379081.2(FREM1):c.1637G>A (p.Arg546Gln)	Oculotrichoanal syndrome [RCV005045317]\|not provided [RCV002614915]	uncertain significance	9	14842417	14842417	Human	3	name
10047977	CV191843	single nucleotide variant	NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val)	Oculotrichoanal syndrome [RCV000285020]\|not provided [RCV001668334]\|not specified [RCV000175105]	benign	9	14816831	14816831	Human	1	name
156441964	CV1941625	single nucleotide variant	NM_001379081.2(FREM1):c.1117C>T (p.Pro373Ser)	not provided [RCV003112300]	uncertain significance	9	14851319	14851319	Human		name
156445960	CV1950985	single nucleotide variant	NM_001379081.2(FREM1):c.2963C>G (p.Pro988Arg)	Inborn genetic diseases [RCV003162175]\|not provided [RCV003116923]	uncertain significance	9	14808065	14808065	Human	1	name
156385927	CV1961239	single nucleotide variant	NM_001379081.2(FREM1):c.2377A>G (p.Ser793Gly)	not provided [RCV002583482]	uncertain significance	9	14819403	14819403	Human		name
156091542	CV1963282	single nucleotide variant	NM_001379081.2(FREM1):c.2321A>G (p.Asp774Gly)	not provided [RCV002570241]	uncertain significance	9	14823176	14823176	Human		name
156406643	CV1963707	single nucleotide variant	NM_001379081.2(FREM1):c.2387G>C (p.Ser796Thr)	not provided [RCV002585973]	uncertain significance	9	14819393	14819393	Human		name
156412162	CV1970243	single nucleotide variant	NM_001379081.2(FREM1):c.2008G>A (p.Asp670Asn)	Oculotrichoanal syndrome [RCV005042895]\|not provided [RCV002608461]	uncertain significance	9	14824866	14824866	Human	3	name
156323993	CV2022445	single nucleotide variant	NM_001379081.2(FREM1):c.2702G>T (p.Cys901Phe)	not provided [RCV002717283]	uncertain significance	9	14813003	14813003	Human		name
156126156	CV2036326	single nucleotide variant	NM_001379081.2(FREM1):c.2044A>G (p.Ile682Val)	not provided [RCV002785985]	uncertain significance	9	14824830	14824830	Human		name
156194965	CV2038196	single nucleotide variant	NM_001379081.2(FREM1):c.1321G>A (p.Asp441Asn)	Inborn genetic diseases [RCV004973595]\|Oculotrichoanal syndrome [RCV005044966]\|not provided [RCV002766033]	uncertain significance	9	14846032	14846032	Human	4	name
156001874	CV2057488	single nucleotide variant	NM_001379081.2(FREM1):c.2224C>T (p.Pro742Ser)	not provided [RCV002819692]	uncertain significance	9	14823273	14823273	Human		name
156138757	CV2106119	single nucleotide variant	NM_001379081.2(FREM1):c.2107G>T (p.Val703Leu)	Inborn genetic diseases [RCV004973731]\|Oculotrichoanal syndrome [RCV005045075]\|not provided [RCV002914826]	uncertain significance	9	14824087	14824087	Human	4	name
155934999	CV2114072	single nucleotide variant	NM_001379081.2(FREM1):c.2542G>T (p.Val848Phe)	Inborn genetic diseases [RCV003167927]\|Oculotrichoanal syndrome [RCV005045046]\|not provided [RCV002904068]	uncertain significance	9	14819238	14819238	Human	4	name
155935014	CV2114073	single nucleotide variant	NM_001379081.2(FREM1):c.2351C>A (p.Pro784His)	Inborn genetic diseases [RCV003167928]\|Oculotrichoanal syndrome [RCV005045047]\|not provided [RCV002904069]	uncertain significance	9	14819429	14819429	Human	4	name
155935050	CV2114075	single nucleotide variant	NM_001379081.2(FREM1):c.1616T>A (p.Leu539Gln)	Inborn genetic diseases [RCV004066201]\|not provided [RCV002904071]	uncertain significance	9	14842438	14842438	Human	1	name
155934154	CV2129379	single nucleotide variant	NM_001379081.2(FREM1):c.2945C>T (p.Ser982Leu)	FREM1-related disorder [RCV004753602]\|Inborn genetic diseases [RCV003269347]\|Oculotrichoanal syndrome [RCV005050671]\|not provided [RCV002970812]	uncertain significance	9	14808083	14808083	Human	4	name , alternate_id
156269200	CV2135207	single nucleotide variant	NM_001379081.2(FREM1):c.2563A>G (p.Thr855Ala)	FREM1-related disorder [RCV003418696]\|Inborn genetic diseases [RCV002988760]\|Oculotrichoanal syndrome [RCV005045134]\|not provided [RCV002988759]	uncertain significance	9	14816855	14816855	Human	4	name , alternate_id
10450202	CV215397	single nucleotide variant	NM_001379081.2(FREM1):c.2663C>T (p.Pro888Leu)	not specified [RCV000203185]	uncertain significance	9	14813042	14813042	Human		name
10766634	CV215773	single nucleotide variant	NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	Congenital diaphragmatic hernia [RCV000203291]\|Oculotrichoanal syndrome [RCV000289080]\|not provided [RCV002057046]\|not specified [RCV000249912]	pathogenic\|benign\|likely benign\|uncertain significance	9	14842660	14842660	Human	3	name
156314438	CV2158403	single nucleotide variant	NM_001379081.2(FREM1):c.2656G>A (p.Asp886Asn)	Oculotrichoanal syndrome [RCV005045165]\|not provided [RCV003028774]	uncertain significance	9	14813049	14813049	Human	3	name
156324074	CV2163215	single nucleotide variant	NM_001379081.2(FREM1):c.2423A>G (p.Lys808Arg)	not provided [RCV003029369]	uncertain significance	9	14819357	14819357	Human		name
156369248	CV2193929	single nucleotide variant	NM_001379081.2(FREM1):c.2948A>G (p.Asp983Gly)	Inborn genetic diseases [RCV002652551]	uncertain significance	9	14808080	14808080	Human	1	name
156304495	CV2252511	single nucleotide variant	NM_001379081.2(FREM1):c.2359G>A (p.Val787Met)	Inborn genetic diseases [RCV002808405]\|Oculotrichoanal syndrome [RCV005045416]	uncertain significance	9	14819421	14819421	Human	4	name
156096321	CV2253111	single nucleotide variant	NM_001379081.2(FREM1):c.2510C>T (p.Thr837Ile)	Inborn genetic diseases [RCV002798837]	uncertain significance	9	14819270	14819270	Human	1	name
156236897	CV2268297	single nucleotide variant	NM_001379081.2(FREM1):c.2764G>C (p.Asp922His)	Inborn genetic diseases [RCV002854001]\|Oculotrichoanal syndrome [RCV005047326]	uncertain significance	9	14812941	14812941	Human	4	name
156015990	CV2270113	single nucleotide variant	NM_001379081.2(FREM1):c.1192G>A (p.Ala398Thr)	Inborn genetic diseases [RCV002844186]	uncertain significance	9	14848734	14848734	Human	1	name
155954537	CV2274337	single nucleotide variant	NM_001379081.2(FREM1):c.1508A>G (p.His503Arg)	Inborn genetic diseases [RCV002840703]\|Oculotrichoanal syndrome [RCV005047328]	uncertain significance	9	14842546	14842546	Human	4	name
156262443	CV2282480	single nucleotide variant	NM_001379081.2(FREM1):c.1378T>C (p.Trp460Arg)	Inborn genetic diseases [RCV002831794]	likely benign	9	14845975	14845975	Human	1	name
156014337	CV2300533	single nucleotide variant	NM_001379081.2(FREM1):c.1696C>A (p.Gln566Lys)	Inborn genetic diseases [RCV002884400]	uncertain significance	9	14842358	14842358	Human	1	name
156058035	CV2305211	single nucleotide variant	NM_001379081.2(FREM1):c.2794C>T (p.Arg932Cys)	Inborn genetic diseases [RCV002911607]\|Oculotrichoanal syndrome [RCV005047348]	uncertain significance	9	14812911	14812911	Human	4	name
156053311	CV2312443	single nucleotide variant	NM_001379081.2(FREM1):c.1373A>G (p.His458Arg)	Inborn genetic diseases [RCV002911334]	uncertain significance	9	14845980	14845980	Human	1	name
156351189	CV2323706	single nucleotide variant	NM_001379081.2(FREM1):c.2558A>G (p.Asp853Gly)	Inborn genetic diseases [RCV002939901]	uncertain significance	9	14816860	14816860	Human	1	name
155975214	CV2327702	single nucleotide variant	NM_001379081.2(FREM1):c.2854A>G (p.Arg952Gly)	Inborn genetic diseases [RCV002907288]	likely benign	9	14812851	14812851	Human	1	name
156186837	CV2378014	single nucleotide variant	NM_001379081.2(FREM1):c.2723T>C (p.Val908Ala)	Inborn genetic diseases [RCV002699713]\|Oculotrichoanal syndrome [RCV005047387]	uncertain significance	9	14812982	14812982	Human	4	name
156112144	CV2387887	single nucleotide variant	NM_001379081.2(FREM1):c.1882G>A (p.Val628Met)	Inborn genetic diseases [RCV002739785]\|Oculotrichoanal syndrome [RCV005047393]	uncertain significance	9	14824992	14824992	Human	4	name
243058827	CV2410227	single nucleotide variant	NM_001379081.2(FREM1):c.2875G>A (p.Val959Met)	not provided [RCV003143410]	uncertain significance	9	14812830	14812830	Human		name
243049954	CV2419504	single nucleotide variant	NM_001379081.2(FREM1):c.1463G>A (p.Ser488Asn)	not provided [RCV003156436]	uncertain significance	9	14842591	14842591	Human		name
329361627	CV2455805	single nucleotide variant	NM_001379081.2(FREM1):c.1751A>G (p.His584Arg)	Inborn genetic diseases [RCV003205615]	uncertain significance	9	14841577	14841577	Human	1	name
329379743	CV2456441	single nucleotide variant	NM_001379081.2(FREM1):c.2207C>T (p.Pro736Leu)	Inborn genetic diseases [RCV003212560]	uncertain significance	9	14823290	14823290	Human	1	name
329369864	CV2461253	single nucleotide variant	NM_001379081.2(FREM1):c.1646A>G (p.Asp549Gly)	Inborn genetic diseases [RCV003209179]	uncertain significance	9	14842408	14842408	Human	1	name
329399856	CV2467655	single nucleotide variant	NM_001379081.2(FREM1):c.2431A>T (p.Asn811Tyr)	Inborn genetic diseases [RCV003221118]	uncertain significance	9	14819349	14819349	Human	1	name
11543007	CV253496	single nucleotide variant	NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr)	Oculotrichoanal syndrome [RCV000306924]\|not provided [RCV001527894]\|not specified [RCV000241885]	benign	9	14819372	14819372	Human	1	name
11546226	CV253497	single nucleotide variant	NM_001379081.2(FREM1):c.1315G>C (p.Val439Leu)	Oculotrichoanal syndrome [RCV000394972]\|not provided [RCV001689938]\|not specified [RCV000246180]	benign	9	14846038	14846038	Human	1	name
401782195	CV2686584	single nucleotide variant	NM_001379081.2(FREM1):c.1784T>G (p.Ile595Ser)	Inborn genetic diseases [RCV003265617]	uncertain significance	9	14841544	14841544	Human	1	name
401718244	CV2700257	single nucleotide variant	NM_001379081.2(FREM1):c.1897A>G (p.Ile633Val)	Inborn genetic diseases [RCV003266423]	uncertain significance	9	14824977	14824977	Human	1	name
401735838	CV2702966	single nucleotide variant	NM_001379081.2(FREM1):c.1661A>T (p.Asp554Val)	Inborn genetic diseases [RCV003273020]	uncertain significance	9	14842393	14842393	Human	1	name
401760268	CV2709714	single nucleotide variant	NM_001379081.2(FREM1):c.2993C>G (p.Pro998Arg)	Inborn genetic diseases [RCV003257158]	uncertain significance	9	14808035	14808035	Human	1	name
401733633	CV2713159	single nucleotide variant	NM_001379081.2(FREM1):c.1069T>C (p.Ser357Pro)	Inborn genetic diseases [RCV003272383]	uncertain significance	9	14851367	14851367	Human	1	name
401883982	CV2761202	single nucleotide variant	NM_001379081.2(FREM1):c.2339C>T (p.Ala780Val)	Inborn genetic diseases [RCV003351118]	likely benign	9	14819441	14819441	Human	1	name
401856794	CV2761798	single nucleotide variant	NM_001379081.2(FREM1):c.2650G>A (p.Val884Ile)	Inborn genetic diseases [RCV003341074]	uncertain significance	9	14813055	14813055	Human	1	name
401887707	CV2770105	single nucleotide variant	NM_001379081.2(FREM1):c.2648C>T (p.Pro883Leu)	Inborn genetic diseases [RCV003367299]	uncertain significance	9	14813057	14813057	Human	1	name
401936484	CV2798571	single nucleotide variant	NM_001379081.2(FREM1):c.2301C>G (p.Asn767Lys)	FREM1-related disorder [RCV003414496]	uncertain significance	9	14823196	14823196	Human		name , trait , alternate_id
401924481	CV2800090	single nucleotide variant	NM_001379081.2(FREM1):c.1711A>G (p.Met571Val)	FREM1-related disorder [RCV003404712]	uncertain significance	9	14842343	14842343	Human		name , trait , alternate_id
401910946	CV2828779	single nucleotide variant	NM_001379081.2(FREM1):c.1105G>A (p.Ala369Thr)	not provided [RCV003425616]	uncertain significance	9	14851331	14851331	Human		name
404979492	CV2850128	single nucleotide variant	NM_001379081.2(FREM1):c.1654G>A (p.Ala552Thr)	not provided [RCV003487842]	uncertain significance	9	14842400	14842400	Human		name
402505310	CV2884412	single nucleotide variant	NM_001379081.2(FREM1):c.1325A>G (p.Asn442Ser)	not provided [RCV003546304]	likely benign	9	14846028	14846028	Human		name
405238597	CV2889148	single nucleotide variant	NM_001379081.2(FREM1):c.2807A>G (p.His936Arg)	not provided [RCV003556890]	uncertain significance	9	14812898	14812898	Human		name
402482637	CV3001308	single nucleotide variant	NM_001379081.2(FREM1):c.2675A>C (p.Lys892Thr)	not provided [RCV003686736]	uncertain significance	9	14813030	14813030	Human		name
405231575	CV3070712	single nucleotide variant	NM_001379081.2(FREM1):c.1432G>T (p.Ala478Ser)	not provided [RCV003734997]	uncertain significance	9	14842622	14842622	Human		name
11610824	CV307829	single nucleotide variant	NM_001379081.2(FREM1):c.2818A>G (p.Arg940Gly)	Inborn genetic diseases [RCV002523766]\|Oculotrichoanal syndrome [RCV000386453]	uncertain significance	9	14812887	14812887	Human	2	name
11599667	CV307841	single nucleotide variant	NM_001379081.2(FREM1):c.1815C>G (p.Ile605Met)	Oculotrichoanal syndrome [RCV000267657]\|Oculotrichoanal syndrome [RCV005044599]	uncertain significance	9	14841513	14841513	Human	3	name
11608128	CV307846	single nucleotide variant	NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp)	Inborn genetic diseases [RCV004619281]\|Oculotrichoanal syndrome [RCV000351071]\|Oculotrichoanal syndrome [RCV002480255]	uncertain significance	9	14846008	14846008	Human	4	name
11598733	CV312154	single nucleotide variant	NM_001379081.2(FREM1):c.2104A>G (p.Met702Val)	Oculotrichoanal syndrome [RCV000259454]\|not provided [RCV001683451]	benign\|likely benign	9	14824090	14824090	Human	1	name
11610105	CV312163	single nucleotide variant	NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly)	Chronic kidney disease [RCV001171324]\|Congenital anomaly of kidney and urinary tract [RCV001328303]\|Inborn genetic diseases [RCV004022115]\|Oculotrichoanal syndrome [RCV000377307]\|not provided [RCV002523769]	uncertain significance	9	14842414	14842414	Human	5	name
11602622	CV312164	single nucleotide variant	NM_001379081.2(FREM1):c.1165G>T (p.Val389Leu)	Inborn genetic diseases [RCV004022116]\|Oculotrichoanal syndrome [RCV000292709]\|Oculotrichoanal syndrome [RCV005044600]	uncertain significance	9	14848761	14848761	Human	4	name
405076514	CV3156201	single nucleotide variant	NM_001379081.2(FREM1):c.1795C>T (p.Arg599Cys)	Inborn genetic diseases [RCV004369486]\|not provided [RCV003851259]	uncertain significance	9	14841533	14841533	Human	1	name
11600597	CV317784	single nucleotide variant	NM_001379081.2(FREM1):c.2170C>T (p.His724Tyr)	FREM1-related disorder [RCV004752883]\|Oculotrichoanal syndrome [RCV000275271]\|Oculotrichoanal syndrome [RCV002480254]	uncertain significance	9	14823327	14823327	Human	3	name , alternate_id
11608590	CV317786	single nucleotide variant	NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly)	Inborn genetic diseases [RCV002523768]\|Oculotrichoanal syndrome [RCV000357222]\|Oculotrichoanal syndrome [RCV002481257]	uncertain significance	9	14824081	14824081	Human	4	name
11605156	CV318292	single nucleotide variant	NM_001379081.2(FREM1):c.2795G>A (p.Arg932His)	Inborn genetic diseases [RCV003168579]\|Oculotrichoanal syndrome [RCV000316684]\|Oculotrichoanal syndrome [RCV002480253]\|not provided [RCV002523767]	uncertain significance	9	14812910	14812910	Human	4	name
11609865	CV318293	single nucleotide variant	NM_001379081.2(FREM1):c.2785G>T (p.Val929Leu)	Oculotrichoanal syndrome [RCV000373588]\|Oculotrichoanal syndrome [RCV005049528]\|not provided [RCV005425946]	uncertain significance	9	14812920	14812920	Human	3	name
11611557	CV318299	single nucleotide variant	NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser)	Inborn genetic diseases [RCV004619280]\|Oculotrichoanal syndrome [RCV000396923]\|Oculotrichoanal syndrome [RCV002502405]\|not provided [RCV001753843]	uncertain significance	9	14819360	14819360	Human	4	name
11607758	CV318303	single nucleotide variant	NM_001379081.2(FREM1):c.1495A>G (p.Ile499Val)	Oculotrichoanal syndrome [RCV000347145]\|not provided [RCV002058790]	benign\|likely benign	9	14842559	14842559	Human	1	name
405268684	CV3187102	single nucleotide variant	NM_001379081.2(FREM1):c.2792C>T (p.Ala931Val)	not provided [RCV003887185]	uncertain significance	9	14812913	14812913	Human		name
405293862	CV3210481	single nucleotide variant	NM_001379081.2(FREM1):c.1289G>A (p.Arg430Gln)	FREM1-related disorder [RCV003932302]	likely benign	9	14846064	14846064	Human		name , trait , alternate_id
405289704	CV3221970	single nucleotide variant	NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)	BNAR syndrome [RCV003983750]	pathogenic	9	14812983	14812983	Human	1	name
405763068	CV3250888	single nucleotide variant	NM_001379081.2(FREM1):c.1030T>C (p.Tyr344His)	Inborn genetic diseases [RCV004394594]	uncertain significance	9	14851406	14851406	Human	1	name
405763073	CV3250889	single nucleotide variant	NM_001379081.2(FREM1):c.1168T>A (p.Tyr390Asn)	Inborn genetic diseases [RCV004394595]	uncertain significance	9	14848758	14848758	Human	1	name
405763080	CV3250890	single nucleotide variant	NM_001379081.2(FREM1):c.1483G>A (p.Val495Met)	Inborn genetic diseases [RCV004394596]	uncertain significance	9	14842571	14842571	Human	1	name
405763086	CV3250891	single nucleotide variant	NM_001379081.2(FREM1):c.1540G>A (p.Val514Ile)	Inborn genetic diseases [RCV004394597]\|Oculotrichoanal syndrome [RCV005040640]	likely benign\|uncertain significance	9	14842514	14842514	Human	4	name
405763095	CV3250892	single nucleotide variant	NM_001379081.2(FREM1):c.1838T>C (p.Val613Ala)	Inborn genetic diseases [RCV004394598]	uncertain significance	9	14841490	14841490	Human	1	name
405763101	CV3250893	single nucleotide variant	NM_001379081.2(FREM1):c.1982T>C (p.Ile661Thr)	Inborn genetic diseases [RCV004394599]	uncertain significance	9	14824892	14824892	Human	1	name
405763107	CV3250894	single nucleotide variant	NM_001379081.2(FREM1):c.2141C>T (p.Thr714Met)	Inborn genetic diseases [RCV004394600]	uncertain significance	9	14824053	14824053	Human	1	name
405763114	CV3250895	single nucleotide variant	NM_001379081.2(FREM1):c.2380A>G (p.Ile794Val)	Inborn genetic diseases [RCV004394601]	likely benign	9	14819400	14819400	Human	1	name
405763120	CV3250896	single nucleotide variant	NM_001379081.2(FREM1):c.2449C>T (p.Arg817Trp)	Inborn genetic diseases [RCV004394602]\|Oculotrichoanal syndrome [RCV005040641]	uncertain significance	9	14819331	14819331	Human	4	name
405763132	CV3250898	single nucleotide variant	NM_001379081.2(FREM1):c.2654A>G (p.Asn885Ser)	Inborn genetic diseases [RCV004394604]	uncertain significance	9	14813051	14813051	Human	1	name
405763138	CV3250899	single nucleotide variant	NM_001379081.2(FREM1):c.2705C>T (p.Ser902Leu)	Inborn genetic diseases [RCV004394605]	uncertain significance	9	14813000	14813000	Human	1	name
405763144	CV3250900	single nucleotide variant	NM_001379081.2(FREM1):c.2901G>T (p.Glu967Asp)	Inborn genetic diseases [RCV004394606]	uncertain significance	9	14808127	14808127	Human	1	name
405854653	CV3392524	duplication	NM_001379081.2(FREM1):c.3165dup (p.Ala1056fs)	Oculotrichoanal syndrome [RCV004527545]	likely pathogenic	9	14806769	14806770	Human	1	name
407494710	CV3442901	single nucleotide variant	NM_001379081.2(FREM1):c.1231A>G (p.Thr411Ala)	Inborn genetic diseases [RCV004621393]	uncertain significance	9	14848695	14848695	Human	1	name
407494730	CV3442907	single nucleotide variant	NM_001379081.2(FREM1):c.1018C>G (p.Pro340Ala)	Inborn genetic diseases [RCV004621399]	uncertain significance	9	14851418	14851418	Human	1	name
407494739	CV3442910	single nucleotide variant	NM_001379081.2(FREM1):c.2191G>A (p.Val731Met)	Inborn genetic diseases [RCV004621402]	uncertain significance	9	14823306	14823306	Human	1	name
407494767	CV3442919	single nucleotide variant	NM_001379081.2(FREM1):c.1832A>C (p.Gln611Pro)	Inborn genetic diseases [RCV004621411]	uncertain significance	9	14841496	14841496	Human	1	name
408369711	CV3502853	single nucleotide variant	NM_001379081.2(FREM1):c.2486G>C (p.Gly829Ala)	not provided [RCV004723974]	uncertain significance	9	14819294	14819294	Human		name
408384498	CV3505254	single nucleotide variant	NM_001379081.2(FREM1):c.1562C>T (p.Pro521Leu)	FREM1-related disorder [RCV004731778]	uncertain significance	9	14842492	14842492	Human		name , trait , alternate_id
408379991	CV3508382	single nucleotide variant	NM_001379081.2(FREM1):c.1016C>G (p.Ala339Gly)	FREM1-related disorder [RCV004753812]	uncertain significance	9	14851420	14851420	Human		name , trait , alternate_id
408380273	CV3512274	single nucleotide variant	NM_001379081.2(FREM1):c.1775T>G (p.Phe592Cys)	FREM1-related disorder [RCV004754038]\|Inborn genetic diseases [RCV004981190]\|Oculotrichoanal syndrome [RCV005051478]	uncertain significance	9	14841553	14841553	Human	4	name , alternate_id
408380261	CV3513011	single nucleotide variant	NM_001379081.2(FREM1):c.2800C>T (p.Pro934Ser)	FREM1-related disorder [RCV004754064]	uncertain significance	9	14812905	14812905	Human		name , trait , alternate_id
408379760	CV3517843	single nucleotide variant	NM_001379081.2(FREM1):c.1519C>T (p.Arg507Cys)	FREM1-related disorder [RCV004752665]	uncertain significance	9	14842535	14842535	Human		name , trait , alternate_id
408390022	CV3524882	single nucleotide variant	NM_001379081.2(FREM1):c.2114G>A (p.Ser705Asn)	Inborn genetic diseases [RCV005335999]\|not provided [RCV004769777]	uncertain significance	9	14824080	14824080	Human	1	name
597669932	CV3669972	single nucleotide variant	NM_001379081.2(FREM1):c.1631T>C (p.Met544Thr)	Inborn genetic diseases [RCV004980148]	uncertain significance	9	14842423	14842423	Human	1	name
597669938	CV3669973	single nucleotide variant	NM_001379081.2(FREM1):c.1689G>C (p.Lys563Asn)	Inborn genetic diseases [RCV004980149]	uncertain significance	9	14842365	14842365	Human	1	name
597628997	CV3669977	single nucleotide variant	NM_001379081.2(FREM1):c.1715A>G (p.Lys572Arg)	Inborn genetic diseases [RCV004980152]\|Oculotrichoanal syndrome [RCV005040853]	uncertain significance	9	14842339	14842339	Human	4	name
597669954	CV3669979	single nucleotide variant	NM_001379081.2(FREM1):c.1171G>A (p.Asp391Asn)	Inborn genetic diseases [RCV004980153]	uncertain significance	9	14848755	14848755	Human	1	name
597669960	CV3669980	single nucleotide variant	NM_001379081.2(FREM1):c.2164A>C (p.Thr722Pro)	Inborn genetic diseases [RCV004980154]	uncertain significance	9	14824030	14824030	Human	1	name
597669981	CV3669984	single nucleotide variant	NM_001379081.2(FREM1):c.1847A>G (p.Asp616Gly)	Inborn genetic diseases [RCV004980158]	uncertain significance	9	14841481	14841481	Human	1	name
597669999	CV3669987	single nucleotide variant	NM_001379081.2(FREM1):c.2075A>G (p.His692Arg)	Inborn genetic diseases [RCV004980161]	uncertain significance	9	14824799	14824799	Human	1	name
597670005	CV3669989	single nucleotide variant	NM_001379081.2(FREM1):c.1631T>G (p.Met544Arg)	Inborn genetic diseases [RCV004980162]	uncertain significance	9	14842423	14842423	Human	1	name
597629012	CV3669992	single nucleotide variant	NM_001379081.2(FREM1):c.2371G>A (p.Gly791Ser)	Inborn genetic diseases [RCV004980165]\|Oculotrichoanal syndrome [RCV005040855]	uncertain significance	9	14819409	14819409	Human	4	name
597670059	CV3670002	single nucleotide variant	NM_001379081.2(FREM1):c.2847C>G (p.Phe949Leu)	Inborn genetic diseases [RCV004980173]	uncertain significance	9	14812858	14812858	Human	1	name
597691209	CV3723019	single nucleotide variant	NM_001379081.2(FREM1):c.1979A>G (p.Tyr660Cys)	Oculotrichoanal syndrome [RCV005046359]	uncertain significance	9	14824895	14824895	Human	3	name
597691220	CV3723020	single nucleotide variant	NM_001379081.2(FREM1):c.1975G>A (p.Ala659Thr)	Oculotrichoanal syndrome [RCV005046360]	uncertain significance	9	14824899	14824899	Human	3	name
597691252	CV3723023	single nucleotide variant	NM_001379081.2(FREM1):c.1918C>T (p.Leu640Phe)	Oculotrichoanal syndrome [RCV005046363]	uncertain significance	9	14824956	14824956	Human	3	name
597691280	CV3723025	single nucleotide variant	NM_001379081.2(FREM1):c.1894C>T (p.His632Tyr)	Oculotrichoanal syndrome [RCV005046365]	uncertain significance	9	14824980	14824980	Human	3	name
597691292	CV3723026	single nucleotide variant	NM_001379081.2(FREM1):c.1886C>G (p.Ala629Gly)	Oculotrichoanal syndrome [RCV005046366]	uncertain significance	9	14824988	14824988	Human	3	name
597715012	CV3723027	single nucleotide variant	NM_001379081.2(FREM1):c.1814T>A (p.Ile605Asn)	Oculotrichoanal syndrome [RCV005049073]	uncertain significance	9	14841514	14841514	Human	3	name
597691316	CV3723029	single nucleotide variant	NM_001379081.2(FREM1):c.1669A>G (p.Ile557Val)	Oculotrichoanal syndrome [RCV005046368]	uncertain significance	9	14842385	14842385	Human	3	name
597715037	CV3723031	single nucleotide variant	NM_001379081.2(FREM1):c.1556A>G (p.Asp519Gly)	Oculotrichoanal syndrome [RCV005049075]	uncertain significance	9	14842498	14842498	Human	3	name
597691340	CV3723032	single nucleotide variant	NM_001379081.2(FREM1):c.1503T>G (p.Asp501Glu)	Oculotrichoanal syndrome [RCV005046370]	uncertain significance	9	14842551	14842551	Human	3	name
597691350	CV3723033	single nucleotide variant	NM_001379081.2(FREM1):c.1457A>T (p.Asp486Val)	Oculotrichoanal syndrome [RCV005046371]	uncertain significance	9	14842597	14842597	Human	3	name
597715047	CV3723035	single nucleotide variant	NM_001379081.2(FREM1):c.1355C>T (p.Thr452Ile)	Oculotrichoanal syndrome [RCV005049076]	uncertain significance	9	14845998	14845998	Human	3	name
597691375	CV3723036	single nucleotide variant	NM_001379081.2(FREM1):c.1337G>A (p.Gly446Asp)	Oculotrichoanal syndrome [RCV005046373]	uncertain significance	9	14846016	14846016	Human	3	name
597691383	CV3723037	single nucleotide variant	NM_001379081.2(FREM1):c.1330G>A (p.Asp444Asn)	Oculotrichoanal syndrome [RCV005046374]	uncertain significance	9	14846023	14846023	Human	3	name
597715058	CV3723038	single nucleotide variant	NM_001379081.2(FREM1):c.1325A>T (p.Asn442Ile)	Oculotrichoanal syndrome [RCV005049077]	uncertain significance	9	14846028	14846028	Human	3	name
597691392	CV3723039	single nucleotide variant	NM_001379081.2(FREM1):c.1308G>C (p.Gln436His)	Oculotrichoanal syndrome [RCV005046375]	uncertain significance	9	14846045	14846045	Human	3	name
597691403	CV3723040	single nucleotide variant	NM_001379081.2(FREM1):c.1292C>T (p.Ala431Val)	Oculotrichoanal syndrome [RCV005046376]	uncertain significance	9	14846061	14846061	Human	3	name
597715067	CV3723041	single nucleotide variant	NM_001379081.2(FREM1):c.1284G>T (p.Gln428His)	Oculotrichoanal syndrome [RCV005049078]	uncertain significance	9	14846069	14846069	Human	3	name
597715085	CV3723043	single nucleotide variant	NM_001379081.2(FREM1):c.1244G>A (p.Arg415His)	Oculotrichoanal syndrome [RCV005049080]	uncertain significance	9	14848682	14848682	Human	3	name
597691426	CV3723044	single nucleotide variant	NM_001379081.2(FREM1):c.1243C>T (p.Arg415Cys)	Oculotrichoanal syndrome [RCV005046378]	uncertain significance	9	14848683	14848683	Human	3	name
597691435	CV3723045	single nucleotide variant	NM_001379081.2(FREM1):c.1199T>A (p.Met400Lys)	Oculotrichoanal syndrome [RCV005046379]	uncertain significance	9	14848727	14848727	Human	3	name
597691445	CV3723046	single nucleotide variant	NM_001379081.2(FREM1):c.1198A>G (p.Met400Val)	Oculotrichoanal syndrome [RCV005046380]	uncertain significance	9	14848728	14848728	Human	3	name
597715097	CV3723047	single nucleotide variant	NM_001379081.2(FREM1):c.1130A>C (p.His377Pro)	Oculotrichoanal syndrome [RCV005049081]	uncertain significance	9	14851306	14851306	Human	3	name
597715109	CV3723048	single nucleotide variant	NM_001379081.2(FREM1):c.1102A>T (p.Ile368Phe)	Oculotrichoanal syndrome [RCV005049082]	uncertain significance	9	14851334	14851334	Human	3	name
597691458	CV3723050	single nucleotide variant	NM_001379081.2(FREM1):c.1059A>C (p.Arg353Ser)	Oculotrichoanal syndrome [RCV005046381]	uncertain significance	9	14851377	14851377	Human	3	name
597689299	CV3726277	deletion	NM_001379081.2(FREM1):c.6481del (p.Gln2161fs)	Oculotrichoanal syndrome [RCV005046186]	uncertain significance	9	14737455	14737455	Human	3	name
597689983	CV3726356	deletion	NM_001379081.2(FREM1):c.4552del (p.Ala1518fs)	Oculotrichoanal syndrome [RCV005046248]	likely pathogenic	9	14776094	14776094	Human	3	name
597690066	CV3726366	deletion	NM_001379081.2(FREM1):c.4200del (p.Lys1400fs)	Oculotrichoanal syndrome [RCV005046255]	likely pathogenic	9	14784612	14784612	Human	3	name
597690310	CV3726391	duplication	NM_001379081.2(FREM1):c.3747dup (p.Thr1250fs)	Oculotrichoanal syndrome [RCV005046277]	likely pathogenic	9	14797589	14797590	Human	3	name
597690696	CV3726435	single nucleotide variant	NM_001379081.2(FREM1):c.2995A>G (p.Asn999Asp)	Oculotrichoanal syndrome [RCV005046313]	uncertain significance	9	14808033	14808033	Human	3	name
597690706	CV3726436	single nucleotide variant	NM_001379081.2(FREM1):c.2986A>G (p.Asn996Asp)	Oculotrichoanal syndrome [RCV005046314]	uncertain significance	9	14808042	14808042	Human	3	name
597690717	CV3726437	single nucleotide variant	NM_001379081.2(FREM1):c.2947G>A (p.Asp983Asn)	Oculotrichoanal syndrome [RCV005046315]	uncertain significance	9	14808081	14808081	Human	3	name
597714946	CV3726438	single nucleotide variant	NM_001379081.2(FREM1):c.2914C>G (p.Pro972Ala)	Oculotrichoanal syndrome [RCV005049067]	uncertain significance	9	14808114	14808114	Human	3	name
597690730	CV3726439	single nucleotide variant	NM_001379081.2(FREM1):c.2899G>A (p.Glu967Lys)	Oculotrichoanal syndrome [RCV005046316]	uncertain significance	9	14808129	14808129	Human	3	name
597690743	CV3726440	single nucleotide variant	NM_001379081.2(FREM1):c.2883C>G (p.Tyr961Ter)	Oculotrichoanal syndrome [RCV005046317]	likely pathogenic	9	14812822	14812822	Human	3	name
597690754	CV3726442	single nucleotide variant	NM_001379081.2(FREM1):c.2863A>G (p.Ile955Val)	Oculotrichoanal syndrome [RCV005046318]	uncertain significance	9	14812842	14812842	Human	3	name
597690767	CV3726443	single nucleotide variant	NM_001379081.2(FREM1):c.2857G>A (p.Asp953Asn)	Oculotrichoanal syndrome [RCV005046319]	uncertain significance	9	14812848	14812848	Human	3	name
597690777	CV3726444	single nucleotide variant	NM_001379081.2(FREM1):c.2853G>C (p.Gln951His)	Oculotrichoanal syndrome [RCV005046320]	uncertain significance	9	14812852	14812852	Human	3	name
597690786	CV3726445	single nucleotide variant	NM_001379081.2(FREM1):c.2844G>C (p.Gln948His)	Oculotrichoanal syndrome [RCV005046321]	uncertain significance	9	14812861	14812861	Human	3	name
597690798	CV3726446	single nucleotide variant	NM_001379081.2(FREM1):c.2837T>C (p.Val946Ala)	Oculotrichoanal syndrome [RCV005046322]	uncertain significance	9	14812868	14812868	Human	3	name
597690821	CV3726448	single nucleotide variant	NM_001379081.2(FREM1):c.2815G>C (p.Val939Leu)	Oculotrichoanal syndrome [RCV005046324]	uncertain significance	9	14812890	14812890	Human	3	name
597690834	CV3726450	single nucleotide variant	NM_001379081.2(FREM1):c.2776T>A (p.Leu926Met)	Oculotrichoanal syndrome [RCV005046325]	uncertain significance	9	14812929	14812929	Human	3	name
597690847	CV3726451	single nucleotide variant	NM_001379081.2(FREM1):c.2744T>G (p.Phe915Cys)	Oculotrichoanal syndrome [RCV005046326]	uncertain significance	9	14812961	14812961	Human	3	name
597690856	CV3726452	single nucleotide variant	NM_001379081.2(FREM1):c.2732C>T (p.Ser911Phe)	Inborn genetic diseases [RCV005336059]\|Oculotrichoanal syndrome [RCV005046327]	uncertain significance	9	14812973	14812973	Human	4	name
597714956	CV3726453	single nucleotide variant	NM_001379081.2(FREM1):c.2717A>T (p.Glu906Val)	Oculotrichoanal syndrome [RCV005049068]	uncertain significance	9	14812988	14812988	Human	3	name
597690870	CV3726454	single nucleotide variant	NM_001379081.2(FREM1):c.2717A>G (p.Glu906Gly)	Oculotrichoanal syndrome [RCV005046328]	uncertain significance	9	14812988	14812988	Human	3	name
597690881	CV3726455	single nucleotide variant	NM_001379081.2(FREM1):c.2702G>A (p.Cys901Tyr)	Oculotrichoanal syndrome [RCV005046329]	uncertain significance	9	14813003	14813003	Human	3	name
597690902	CV3726457	single nucleotide variant	NM_001379081.2(FREM1):c.2678C>A (p.Ala893Asp)	Oculotrichoanal syndrome [RCV005046331]	uncertain significance	9	14813027	14813027	Human	3	name
597690910	CV3726458	single nucleotide variant	NM_001379081.2(FREM1):c.2640G>T (p.Glu880Asp)	Oculotrichoanal syndrome [RCV005046332]	uncertain significance	9	14816778	14816778	Human	3	name
597690922	CV3726459	single nucleotide variant	NM_001379081.2(FREM1):c.2635G>A (p.Val879Ile)	Oculotrichoanal syndrome [RCV005046333]	uncertain significance	9	14816783	14816783	Human	3	name
597690935	CV3726460	single nucleotide variant	NM_001379081.2(FREM1):c.2617G>A (p.Ala873Thr)	Oculotrichoanal syndrome [RCV005046334]	uncertain significance	9	14816801	14816801	Human	3	name
597690944	CV3726461	single nucleotide variant	NM_001379081.2(FREM1):c.2612A>G (p.Asn871Ser)	Oculotrichoanal syndrome [RCV005046335]	uncertain significance	9	14816806	14816806	Human	3	name
597714969	CV3726463	single nucleotide variant	NM_001379081.2(FREM1):c.2600C>T (p.Thr867Ile)	Oculotrichoanal syndrome [RCV005049069]	uncertain significance	9	14816818	14816818	Human	3	name
597714980	CV3726464	single nucleotide variant	NM_001379081.2(FREM1):c.2563A>T (p.Thr855Ser)	Oculotrichoanal syndrome [RCV005049070]	uncertain significance	9	14816855	14816855	Human	3	name
597690977	CV3726467	single nucleotide variant	NM_001379081.2(FREM1):c.2515T>C (p.Ser839Pro)	Oculotrichoanal syndrome [RCV005046338]	uncertain significance	9	14819265	14819265	Human	3	name
597715004	CV3726469	single nucleotide variant	NM_001379081.2(FREM1):c.2464C>T (p.His822Tyr)	Oculotrichoanal syndrome [RCV005049072]	uncertain significance	9	14819316	14819316	Human	3	name
597690986	CV3726470	single nucleotide variant	NM_001379081.2(FREM1):c.2461C>A (p.Leu821Met)	Oculotrichoanal syndrome [RCV005046339]	uncertain significance	9	14819319	14819319	Human	3	name
597690995	CV3726471	single nucleotide variant	NM_001379081.2(FREM1):c.2459C>G (p.Pro820Arg)	Oculotrichoanal syndrome [RCV005046340]	uncertain significance	9	14819321	14819321	Human	3	name
597691017	CV3726473	single nucleotide variant	NM_001379081.2(FREM1):c.2408C>T (p.Ser803Phe)	Oculotrichoanal syndrome [RCV005046342]	uncertain significance	9	14819372	14819372	Human	3	name
597691039	CV3726475	single nucleotide variant	NM_001379081.2(FREM1):c.2356A>G (p.Lys786Glu)	Oculotrichoanal syndrome [RCV005046344]	uncertain significance	9	14819424	14819424	Human	3	name
597691063	CV3726477	single nucleotide variant	NM_001379081.2(FREM1):c.2327A>T (p.Gln776Leu)	Oculotrichoanal syndrome [RCV005046346]	uncertain significance	9	14823170	14823170	Human	3	name
597691072	CV3726478	single nucleotide variant	NM_001379081.2(FREM1):c.2290A>C (p.Ile764Leu)	Oculotrichoanal syndrome [RCV005046347]	uncertain significance	9	14823207	14823207	Human	3	name
597691084	CV3726480	single nucleotide variant	NM_001379081.2(FREM1):c.2218A>G (p.Ile740Val)	Oculotrichoanal syndrome [RCV005046348]	uncertain significance	9	14823279	14823279	Human	3	name
597691098	CV3726481	single nucleotide variant	NM_001379081.2(FREM1):c.2212C>T (p.Gln738Ter)	Oculotrichoanal syndrome [RCV005046349]	likely pathogenic	9	14823285	14823285	Human	3	name
597691132	CV3726484	single nucleotide variant	NM_001379081.2(FREM1):c.2117T>C (p.Ile706Thr)	Oculotrichoanal syndrome [RCV005046352]	uncertain significance	9	14824077	14824077	Human	3	name
597691141	CV3726485	single nucleotide variant	NM_001379081.2(FREM1):c.2090C>T (p.Ala697Val)	Oculotrichoanal syndrome [RCV005046353]	uncertain significance	9	14824104	14824104	Human	3	name
597691164	CV3726488	single nucleotide variant	NM_001379081.2(FREM1):c.2051C>A (p.Thr684Asn)	Oculotrichoanal syndrome [RCV005046355]	uncertain significance	9	14824823	14824823	Human	3	name
597691184	CV3726489	single nucleotide variant	NM_001379081.2(FREM1):c.2032C>G (p.Leu678Val)	Oculotrichoanal syndrome [RCV005046357]	uncertain significance	9	14824842	14824842	Human	3	name
597691196	CV3726490	single nucleotide variant	NM_001379081.2(FREM1):c.2023G>C (p.Asp675His)	Oculotrichoanal syndrome [RCV005046358]	uncertain significance	9	14824851	14824851	Human	3	name
597872341	CV3768511	single nucleotide variant	NM_001379081.2(FREM1):c.1070C>T (p.Ser357Leu)	not provided [RCV005122890]	uncertain significance	9	14851366	14851366	Human		name
597933358	CV3793382	single nucleotide variant	NM_001379081.2(FREM1):c.2703C>G (p.Cys901Trp)	not provided [RCV005132038]	uncertain significance	9	14813002	14813002	Human		name
597967769	CV3794600	single nucleotide variant	NM_001379081.2(FREM1):c.1565C>A (p.Pro522Gln)	not provided [RCV005140776]	uncertain significance	9	14842489	14842489	Human		name
598230263	CV3970135	single nucleotide variant	NM_001379081.2(FREM1):c.2618C>T (p.Ala873Val)	Inborn genetic diseases [RCV005342220]	uncertain significance	9	14816800	14816800	Human	1	name
598230267	CV3970136	single nucleotide variant	NM_001379081.2(FREM1):c.2450G>C (p.Arg817Pro)	Inborn genetic diseases [RCV005342221]	uncertain significance	9	14819330	14819330	Human	1	name
598230281	CV3970140	single nucleotide variant	NM_001379081.2(FREM1):c.2157G>T (p.Arg719Ser)	Inborn genetic diseases [RCV005342224]	uncertain significance	9	14824037	14824037	Human	1	name
598230331	CV3970150	single nucleotide variant	NM_001379081.2(FREM1):c.2206C>T (p.Pro736Ser)	Inborn genetic diseases [RCV005342233]	uncertain significance	9	14823291	14823291	Human	1	name
598230344	CV3970153	single nucleotide variant	NM_001379081.2(FREM1):c.1627T>A (p.Ser543Thr)	Inborn genetic diseases [RCV005342236]	uncertain significance	9	14842427	14842427	Human	1	name
598230360	CV3970157	single nucleotide variant	NM_001379081.2(FREM1):c.1160T>C (p.Leu387Ser)	Inborn genetic diseases [RCV005342239]	uncertain significance	9	14848766	14848766	Human	1	name
598230369	CV3970160	single nucleotide variant	NM_001379081.2(FREM1):c.2016A>T (p.Glu672Asp)	Inborn genetic diseases [RCV005342241]	uncertain significance	9	14824858	14824858	Human	1	name
598230374	CV3970161	single nucleotide variant	NM_001379081.2(FREM1):c.2882A>G (p.Tyr961Cys)	Inborn genetic diseases [RCV005342242]	uncertain significance	9	14812823	14812823	Human	1	name
598230381	CV3970162	single nucleotide variant	NM_001379081.2(FREM1):c.1978T>G (p.Tyr660Asp)	Inborn genetic diseases [RCV005342243]	uncertain significance	9	14824896	14824896	Human	1	name
598230384	CV3970163	single nucleotide variant	NM_001379081.2(FREM1):c.1739G>A (p.Gly580Asp)	Inborn genetic diseases [RCV005342244]	uncertain significance	9	14841589	14841589	Human	1	name
8602319	CV39724	single nucleotide variant	NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	Irido-corneo-trabecular dysgenesis [RCV000207399]\|Oculotrichoanal syndrome [RCV000988143]\|Oculotrichoanal syndrome [RCV005042084]\|Trigonocephaly 2 [RCV000023746]\|not provided [RCV000059636]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	9	14842561	14842561	Human	7	name
617149887	CV4017275	single nucleotide variant	NM_001379081.2(FREM1):c.2810G>T (p.Gly937Val)	not provided [RCV005416932]	uncertain significance	9	14812895	14812895	Human		name
617149683	CV4021323	single nucleotide variant	NM_001379081.2(FREM1):c.1691C>A (p.Pro564His)	not provided [RCV005425292]	uncertain significance	9	14842363	14842363	Human		name
13520711	CV495417	deletion	NM_001379081.2(FREM1):c.3925del (p.Glu1309fs)	not provided [RCV000598858]	pathogenic	9	14792799	14792799	Human		name
13831504	CV582002	deletion	NM_001379081.2(FREM1):c.4651del (p.Gln1551fs)	not provided [RCV000722184]	uncertain significance	9	14775995	14775995	Human		name
15151455	CV711906	single nucleotide variant	NM_001379081.2(FREM1):c.1184A>C (p.Glu395Ala)	FREM1-related disorder [RCV003960795]\|not provided [RCV000968142]	likely benign	9	14848742	14848742	Human		name , alternate_id
15149951	CV737082	single nucleotide variant	NM_001379081.2(FREM1):c.2212C>G (p.Gln738Glu)	FREM1-related disorder [RCV004753096]\|Oculotrichoanal syndrome [RCV001169119]\|Oculotrichoanal syndrome [RCV005392523]\|not provided [RCV000901045]	likely benign\|uncertain significance	9	14823285	14823285	Human	3	name , alternate_id
15106611	CV783389	single nucleotide variant	NM_001379081.2(FREM1):c.1492C>T (p.Arg498Trp)	FREM1-related disorder [RCV003928607]\|Oculotrichoanal syndrome [RCV001166696]\|not provided [RCV000976663]	benign\|likely benign	9	14842562	14842562	Human	1	name , alternate_id
21069941	CV796291	single nucleotide variant	NM_001379081.2(FREM1):c.1634T>C (p.Leu545Pro)	not provided [RCV000999140]	uncertain significance	9	14842420	14842420	Human		name
21069946	CV796293	single nucleotide variant	NM_001379081.2(FREM1):c.1202C>T (p.Thr401Ile)	not provided [RCV000999142]	uncertain significance	9	14848724	14848724	Human		name
28876407	CV901644	single nucleotide variant	NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser)	Inborn genetic diseases [RCV004978075]\|Oculotrichoanal syndrome [RCV001166133]\|Oculotrichoanal syndrome [RCV002491478]\|not provided [RCV003442218]	conflicting interpretations of pathogenicity\|uncertain significance	9	14808132	14808132	Human	4	name
28876409	CV901645	single nucleotide variant	NM_001379081.2(FREM1):c.2839G>T (p.Asp947Tyr)	Oculotrichoanal syndrome [RCV001166134]\|Oculotrichoanal syndrome [RCV005039987]\|not provided [RCV002557424]	uncertain significance	9	14812866	14812866	Human	3	name
28876412	CV901646	single nucleotide variant	NM_001379081.2(FREM1):c.2788A>G (p.Ile930Val)	Inborn genetic diseases [RCV002559591]\|Oculotrichoanal syndrome [RCV001166135]\|not provided [RCV003425973]	uncertain significance	9	14812917	14812917	Human	2	name
28878005	CV901647	single nucleotide variant	NM_001379081.2(FREM1):c.2648C>G (p.Pro883Arg)	Oculotrichoanal syndrome [RCV001166617]\|Oculotrichoanal syndrome [RCV005049775]	uncertain significance	9	14813057	14813057	Human	3	name
28878020	CV901648	single nucleotide variant	NM_001379081.2(FREM1):c.2504G>A (p.Gly835Glu)	Oculotrichoanal syndrome [RCV001166620]\|Oculotrichoanal syndrome [RCV005049776]	uncertain significance	9	14819276	14819276	Human	3	name
28884001	CV901649	single nucleotide variant	NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln)	Oculotrichoanal syndrome [RCV001168369]\|Oculotrichoanal syndrome [RCV002480578]\|not provided [RCV002559615]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	14819330	14819330	Human	3	name
28884010	CV901651	single nucleotide variant	NM_001379081.2(FREM1):c.2299A>C (p.Asn767His)	Oculotrichoanal syndrome [RCV001168371]\|not provided [RCV002558666]	uncertain significance	9	14823198	14823198	Human	1	name
28878267	CV901657	single nucleotide variant	NM_001379081.2(FREM1):c.1397G>A (p.Gly466Glu)	FREM1-related disorder [RCV005225252]\|Oculotrichoanal syndrome [RCV001166698]	uncertain significance	9	14842657	14842657	Human	1	name , alternate_id
28884218	CV901659	single nucleotide variant	NM_001379081.2(FREM1):c.1238C>T (p.Ala413Val)	Oculotrichoanal syndrome [RCV001168430]	uncertain significance	9	14848688	14848688	Human	1	name
41408071	CV980704	single nucleotide variant	NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys)	Trigonocephaly 2 [RCV004799578]	uncertain significance	9	14848694	14848694	Human	1	name
8595580	CV17029	single nucleotide variant	NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser)	BNAR syndrome [RCV000002067]\|Oculotrichoanal syndrome [RCV003987308]\|Oculotrichoanal syndrome [RCV005049312]\|not provided [RCV000059639]	pathogenic\|uncertain significance\|not provided	9	14784494	14784494	Human	3	name
597714552	CV3726280	single nucleotide variant	NM_001379081.2(FREM1):c.6430C>G (p.Arg2144Gly)	Oculotrichoanal syndrome [RCV005049031]	uncertain significance	9	14737506	14737506	Human	3	name
597714563	CV3726281	single nucleotide variant	NM_001379081.2(FREM1):c.6413G>A (p.Arg2138Lys)	Oculotrichoanal syndrome [RCV005049032]	uncertain significance	9	14737523	14737523	Human	3	name
597714586	CV3726291	single nucleotide variant	NM_001379081.2(FREM1):c.6291G>T (p.Gln2097His)	Oculotrichoanal syndrome [RCV005049034]	uncertain significance	9	14740198	14740198	Human	3	name
597714609	CV3726294	single nucleotide variant	NM_001379081.2(FREM1):c.6204C>G (p.Ile2068Met)	Oculotrichoanal syndrome [RCV005049036]	uncertain significance	9	14746403	14746403	Human	3	name
597714614	CV3726295	single nucleotide variant	NM_001379081.2(FREM1):c.6158G>C (p.Cys2053Ser)	Oculotrichoanal syndrome [RCV005049037]	uncertain significance	9	14746449	14746449	Human	3	name
597714645	CV3726317	single nucleotide variant	NM_001379081.2(FREM1):c.5651C>A (p.Ser1884Tyr)	Oculotrichoanal syndrome [RCV005049040]	uncertain significance	9	14748546	14748546	Human	3	name
597714657	CV3726320	single nucleotide variant	NM_001379081.2(FREM1):c.5554G>A (p.Gly1852Arg)	Oculotrichoanal syndrome [RCV005049041]	uncertain significance	9	14750130	14750130	Human	3	name
597714669	CV3726322	single nucleotide variant	NM_001379081.2(FREM1):c.5501A>G (p.Asn1834Ser)	Oculotrichoanal syndrome [RCV005049042]	uncertain significance	9	14750183	14750183	Human	3	name
597714679	CV3726323	single nucleotide variant	NM_001379081.2(FREM1):c.5462A>T (p.Asp1821Val)	Oculotrichoanal syndrome [RCV005049043]	uncertain significance	9	14750222	14750222	Human	3	name
597714689	CV3726328	single nucleotide variant	NM_001379081.2(FREM1):c.5270G>T (p.Gly1757Val)	Oculotrichoanal syndrome [RCV005049044]	uncertain significance	9	14759836	14759836	Human	3	name
597714797	CV3726364	single nucleotide variant	NM_001379081.2(FREM1):c.4327G>A (p.Glu1443Lys)	Oculotrichoanal syndrome [RCV005049054]	uncertain significance	9	14784485	14784485	Human	3	name
597714817	CV3726371	single nucleotide variant	NM_001379081.2(FREM1):c.4133C>T (p.Ser1378Phe)	Oculotrichoanal syndrome [RCV005049056]	uncertain significance	9	14788963	14788963	Human	3	name
597690322	CV3726392	single nucleotide variant	NM_001379081.2(FREM1):c.3746T>G (p.Phe1249Cys)	Oculotrichoanal syndrome [RCV005046278]	uncertain significance	9	14797591	14797591	Human	3	name
597690331	CV3726394	single nucleotide variant	NM_001379081.2(FREM1):c.3722A>G (p.Asp1241Gly)	Oculotrichoanal syndrome [RCV005046279]	uncertain significance	9	14797615	14797615	Human	3	name
597690400	CV3726402	single nucleotide variant	NM_001379081.2(FREM1):c.3578A>G (p.His1193Arg)	Oculotrichoanal syndrome [RCV005046286]	uncertain significance	9	14801768	14801768	Human	3	name
597690408	CV3726403	single nucleotide variant	NM_001379081.2(FREM1):c.3565C>G (p.Gln1189Glu)	Oculotrichoanal syndrome [RCV005046287]	uncertain significance	9	14801781	14801781	Human	3	name
597690419	CV3726404	single nucleotide variant	NM_001379081.2(FREM1):c.3554T>C (p.Phe1185Ser)	Oculotrichoanal syndrome [RCV005046288]	uncertain significance	9	14801792	14801792	Human	3	name
597690502	CV3726413	single nucleotide variant	NM_001379081.2(FREM1):c.3420A>G (p.Ile1140Met)	Oculotrichoanal syndrome [RCV005046296]	uncertain significance	9	14805007	14805007	Human	3	name
597690515	CV3726415	single nucleotide variant	NM_001379081.2(FREM1):c.3385A>G (p.Lys1129Glu)	Oculotrichoanal syndrome [RCV005046297]	uncertain significance	9	14805042	14805042	Human	3	name
597690526	CV3726416	single nucleotide variant	NM_001379081.2(FREM1):c.3376A>G (p.Thr1126Ala)	Oculotrichoanal syndrome [RCV005046298]	uncertain significance	9	14805051	14805051	Human	3	name
597690536	CV3726418	single nucleotide variant	NM_001379081.2(FREM1):c.3365C>T (p.Thr1122Met)	Oculotrichoanal syndrome [RCV005046299]	uncertain significance	9	14805062	14805062	Human	3	name
597690548	CV3726420	single nucleotide variant	NM_001379081.2(FREM1):c.3317A>C (p.Tyr1106Ser)	Oculotrichoanal syndrome [RCV005046300]	uncertain significance	9	14805110	14805110	Human	3	name
597714923	CV3726422	single nucleotide variant	NM_001379081.2(FREM1):c.3301G>A (p.Ala1101Thr)	Oculotrichoanal syndrome [RCV005049065]	uncertain significance	9	14805126	14805126	Human	3	name
597690581	CV3726425	single nucleotide variant	NM_001379081.2(FREM1):c.3191T>C (p.Leu1064Ser)	Oculotrichoanal syndrome [RCV005046303]	uncertain significance	9	14806744	14806744	Human	3	name
597714935	CV3726431	single nucleotide variant	NM_001379081.2(FREM1):c.3047C>T (p.Thr1016Met)	Oculotrichoanal syndrome [RCV005049066]	uncertain significance	9	14807981	14807981	Human	3	name
597690683	CV3726434	single nucleotide variant	NM_001379081.2(FREM1):c.3010C>T (p.Leu1004Phe)	Oculotrichoanal syndrome [RCV005046312]	uncertain significance	9	14808018	14808018	Human	3	name
597902921	CV3804479	single nucleotide variant	NM_001379081.2(FREM1):c.4400A>G (p.Tyr1467Cys)	not provided [RCV005152914]	uncertain significance	9	14784412	14784412	Human		name
597933083	CV3810654	single nucleotide variant	NM_001379081.2(FREM1):c.5686C>T (p.Pro1896Ser)	not provided [RCV005157363]	uncertain significance	9	14748511	14748511	Human		name
597892053	CV3822849	single nucleotide variant	NM_001379081.2(FREM1):c.4147T>C (p.Cys1383Arg)	not provided [RCV005179925]	uncertain significance	9	14788949	14788949	Human		name
597893971	CV3833509	single nucleotide variant	NM_001379081.2(FREM1):c.4906C>G (p.Pro1636Ala)	not provided [RCV005180201]	uncertain significance	9	14770758	14770758	Human		name
597945305	CV3844203	single nucleotide variant	NM_001379081.2(FREM1):c.4813G>A (p.Val1605Met)	not provided [RCV005188812]	uncertain significance	9	14775833	14775833	Human		name
598230254	CV3970133	single nucleotide variant	NM_001379081.2(FREM1):c.3229C>G (p.Leu1077Val)	Inborn genetic diseases [RCV005342218]	uncertain significance	9	14806706	14806706	Human	1	name
598230258	CV3970134	single nucleotide variant	NM_001379081.2(FREM1):c.5210A>T (p.Glu1737Val)	Inborn genetic diseases [RCV005342219]	uncertain significance	9	14759896	14759896	Human	1	name
598158439	CV3970138	single nucleotide variant	NM_001379081.2(FREM1):c.4942G>A (p.Gly1648Arg)	Inborn genetic diseases [RCV005328028]	uncertain significance	9	14770722	14770722	Human	1	name
598230278	CV3970139	single nucleotide variant	NM_001379081.2(FREM1):c.6134C>G (p.Thr2045Ser)	Inborn genetic diseases [RCV005342223]	uncertain significance	9	14746927	14746927	Human	1	name
598230286	CV3970141	single nucleotide variant	NM_001379081.2(FREM1):c.4531A>G (p.Arg1511Gly)	Inborn genetic diseases [RCV005342225]	uncertain significance	9	14776115	14776115	Human	1	name
598230292	CV3970142	single nucleotide variant	NM_001379081.2(FREM1):c.5945A>G (p.Lys1982Arg)	Inborn genetic diseases [RCV005342226]	uncertain significance	9	14747328	14747328	Human	1	name
598230297	CV3970143	single nucleotide variant	NM_001379081.2(FREM1):c.5119A>G (p.Ile1707Val)	Inborn genetic diseases [RCV005342227]	uncertain significance	9	14769809	14769809	Human	1	name
598230320	CV3970147	single nucleotide variant	NM_001379081.2(FREM1):c.5886C>G (p.Phe1962Leu)	Inborn genetic diseases [RCV005342231]	uncertain significance	9	14747387	14747387	Human	1	name
598158441	CV3970148	single nucleotide variant	NM_001379081.2(FREM1):c.4444T>C (p.Phe1482Leu)	Inborn genetic diseases [RCV005328029]	uncertain significance	9	14776202	14776202	Human	1	name
598230326	CV3970149	single nucleotide variant	NM_001379081.2(FREM1):c.4285C>A (p.Leu1429Met)	Inborn genetic diseases [RCV005342232]	uncertain significance	9	14784527	14784527	Human	1	name
598230336	CV3970151	single nucleotide variant	NM_001379081.2(FREM1):c.3298A>G (p.Asn1100Asp)	Inborn genetic diseases [RCV005342234]	uncertain significance	9	14805129	14805129	Human	1	name
598158444	CV3970154	single nucleotide variant	NM_001379081.2(FREM1):c.5357T>C (p.Val1786Ala)	Inborn genetic diseases [RCV005328030]	uncertain significance	9	14756424	14756424	Human	1	name
598230348	CV3970155	single nucleotide variant	NM_001379081.2(FREM1):c.3289A>G (p.Lys1097Glu)	Inborn genetic diseases [RCV005342237]	uncertain significance	9	14805138	14805138	Human	1	name
598230364	CV3970158	single nucleotide variant	NM_001379081.2(FREM1):c.4537A>G (p.Lys1513Glu)	Inborn genetic diseases [RCV005342240]	uncertain significance	9	14776109	14776109	Human	1	name
598158447	CV3970159	single nucleotide variant	NM_001379081.2(FREM1):c.3643C>T (p.His1215Tyr)	Inborn genetic diseases [RCV005328031]	uncertain significance	9	14801703	14801703	Human	1	name
598230389	CV3970164	single nucleotide variant	NM_001379081.2(FREM1):c.3139C>A (p.His1047Asn)	Inborn genetic diseases [RCV005342245]	uncertain significance	9	14806796	14806796	Human	1	name
598230395	CV3970165	single nucleotide variant	NM_001379081.2(FREM1):c.3422T>G (p.Ile1141Ser)	Inborn genetic diseases [RCV005342246]	uncertain significance	9	14805005	14805005	Human	1	name
598158449	CV3970167	single nucleotide variant	NM_001379081.2(FREM1):c.3884C>A (p.Ser1295Tyr)	Inborn genetic diseases [RCV005328032]	uncertain significance	9	14792840	14792840	Human	1	name
8602317	CV39721	single nucleotide variant	NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)	Oculotrichoanal syndrome [RCV000023743]\|not provided [RCV000059638]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	9	14792753	14792753	Human	1	name
8602318	CV39723	single nucleotide variant	NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val)	FREM1-related disorder [RCV004752722]\|Oculotrichoanal syndrome [RCV005042083]\|Trigonocephaly 2 [RCV000023745]\|not provided [RCV000059640]\|not specified [RCV002247390]	pathogenic\|uncertain significance\|not provided	9	14776147	14776147	Human	3	name , alternate_id
598178470	CV4008445	single nucleotide variant	NM_001379081.2(FREM1):c.3089G>A (p.Gly1030Asp)	Oculotrichoanal syndrome [RCV005393964]	uncertain significance	9	14806846	14806846	Human	3	name
598178502	CV4008450	single nucleotide variant	NM_001379081.2(FREM1):c.3228A>G (p.Ile1076Met)	Oculotrichoanal syndrome [RCV005393969]	uncertain significance	9	14806707	14806707	Human	3	name
616937836	CV4013773	single nucleotide variant	NM_001379081.2(FREM1):c.6373G>T (p.Glu2125Ter)	BNAR syndrome [RCV005413266]	likely pathogenic	9	14737563	14737563	Human	1	name
617148951	CV4021235	single nucleotide variant	NM_001379081.2(FREM1):c.5864T>C (p.Leu1955Ser)	not provided [RCV005425204]	uncertain significance	9	14747409	14747409	Human		name
8624533	CV79643	single nucleotide variant	NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile)	Oculotrichoanal syndrome [RCV002291556]\|not provided [RCV000059641]	pathogenic\|not provided	9	14740218	14740218	Human	1	name
126910459	CV1037923	single nucleotide variant	NM_001379081.2(FREM1):c.6037T>A (p.Cys2013Ser)	FREM1-related disorder [RCV003918874]\|not provided [RCV001354569]	uncertain significance	9	14747024	14747024	Human		alternate_id
10048285	CV192789	single nucleotide variant	NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg)	FREM1-related disorder [RCV003907583]\|not provided [RCV000880848]\|not specified [RCV000176237]	likely benign\|conflicting interpretations of pathogenicity	9	14801861	14801861	Human		alternate_id
156135508	CV2113291	microsatellite	NM_001379081.2(FREM1):c.3926AGA[1] (p.Lys1310del)	FREM1-related disorder [RCV003943602]\|Oculotrichoanal syndrome [RCV005045077]\|not provided [RCV002928362]	uncertain significance	9	14792793	14792795	Human		alternate_id
156055933	CV2396177	single nucleotide variant	NM_001379081.2(FREM1):c.4471G>A (p.Glu1491Lys)	FREM1-related disorder [RCV003410255]\|Inborn genetic diseases [RCV002759616]	likely benign\|uncertain significance	9	14776175	14776175	Human	1	alternate_id
401920524	CV2796526	single nucleotide variant	NM_001379081.2(FREM1):c.4152A>C (p.Gln1384His)	FREM1-related disorder [RCV003402562]	uncertain significance	9	14788944	14788944	Human		trait , alternate_id
401923266	CV2796754	single nucleotide variant	NM_001379081.2(FREM1):c.3653A>G (p.His1218Arg)	FREM1-related disorder [RCV003404373]\|Oculotrichoanal syndrome [RCV005047567]	uncertain significance	9	14801693	14801693	Human	3	alternate_id
401919375	CV2798266	single nucleotide variant	NM_001379081.2(FREM1):c.5446G>T (p.Asp1816Tyr)	FREM1-related disorder [RCV003402288]	uncertain significance	9	14750238	14750238	Human		trait , alternate_id
401926739	CV2798753	single nucleotide variant	NM_001379081.2(FREM1):c.4343C>G (p.Pro1448Arg)	FREM1-related disorder [RCV003406030]	uncertain significance	9	14784469	14784469	Human		trait , alternate_id
401924483	CV2800091	single nucleotide variant	NM_001379081.2(FREM1):c.5236T>C (p.Ser1746Pro)	FREM1-related disorder [RCV003404713]	uncertain significance	9	14759870	14759870	Human		trait , alternate_id
405237563	CV2881209	single nucleotide variant	NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp)	FREM1-related disorder [RCV003966495]\|Oculotrichoanal syndrome [RCV005047661]\|not provided [RCV003556700]	likely benign\|uncertain significance	9	14775908	14775908	Human	3	alternate_id
11611438	CV307818	single nucleotide variant	NM_001379081.2(FREM1):c.4859T>C (p.Val1620Ala)	FREM1-related disorder [RCV003922648]\|Oculotrichoanal syndrome [RCV000395094]\|not provided [RCV002524597]	benign\|likely benign\|uncertain significance	9	14770805	14770805	Human	1	alternate_id
11609531	CV317781	single nucleotide variant	NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu)	FREM1-related disorder [RCV003932518]\|Oculotrichoanal syndrome [RCV000369261]\|not provided [RCV000894514]	benign\|likely benign\|uncertain significance	9	14805068	14805068	Human	1	alternate_id
405268585	CV3201076	single nucleotide variant	NM_001379081.2(FREM1):c.3167C>A (p.Ala1056Glu)	FREM1-related disorder [RCV003899186]	uncertain significance	9	14806768	14806768	Human		trait , alternate_id
405275265	CV3204734	single nucleotide variant	NM_001379081.2(FREM1):c.5909A>G (p.Lys1970Arg)	FREM1-related disorder [RCV003952121]\|Inborn genetic diseases [RCV004981148]	likely benign\|uncertain significance	9	14747364	14747364	Human	1	alternate_id
408379394	CV3517453	single nucleotide variant	NM_001379081.2(FREM1):c.4982C>G (p.Pro1661Arg)	FREM1-related disorder [RCV004752651]	uncertain significance	9	14770682	14770682	Human		trait , alternate_id
408379461	CV3517893	single nucleotide variant	NM_001379081.2(FREM1):c.4796C>A (p.Thr1599Lys)	FREM1-related disorder [RCV004752667]	uncertain significance	9	14775850	14775850	Human		trait , alternate_id
596920639	CV3534089	single nucleotide variant	NM_001379081.2(FREM1):c.3289A>T (p.Lys1097Ter)	FREM1-related disorder [RCV004783307]	pathogenic	9	14805138	14805138	Human		trait , alternate_id
15157045	CV711904	single nucleotide variant	NM_001379081.2(FREM1):c.4963G>A (p.Val1655Met)	FREM1-related disorder [RCV003905971]\|not provided [RCV000969233]	benign\|likely benign	9	14770701	14770701	Human		alternate_id
15160169	CV723508	single nucleotide variant	NM_001379081.2(FREM1):c.4564G>A (p.Val1522Met)	FREM1-related disorder [RCV003930539]\|not provided [RCV000881331]	likely benign	9	14776082	14776082	Human		alternate_id
15151600	CV723509	single nucleotide variant	NM_001379081.2(FREM1):c.3874C>T (p.Arg1292Cys)	FREM1-related disorder [RCV003948289]\|Oculotrichoanal syndrome [RCV001166553]\|not provided [RCV000879629]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	14792850	14792850	Human	1	alternate_id
15112670	CV723512	single nucleotide variant	NM_001379081.2(FREM1):c.3331C>T (p.His1111Tyr)	FREM1-related disorder [RCV003940759]\|Oculotrichoanal syndrome [RCV001169034]\|not provided [RCV000894515]	likely benign\|uncertain significance	9	14805096	14805096	Human	1	alternate_id
15136690	CV767362	single nucleotide variant	NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)	FREM1-related disorder [RCV003411902]\|Inborn genetic diseases [RCV004973186]\|not provided [RCV000943119]	likely benign\|uncertain significance	9	14775845	14775845	Human	1	alternate_id
28876048	CV901624	single nucleotide variant	NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)	FREM1-related disorder [RCV003953555]\|Oculotrichoanal syndrome [RCV001166028]\|not provided [RCV002068013]	likely benign\|conflicting interpretations of pathogenicity	9	14770785	14770785	Human	1	alternate_id
28876218	CV901635	single nucleotide variant	NM_001379081.2(FREM1):c.4023C>G (p.Cys1341Trp)	FREM1-related disorder [RCV004753222]\|Oculotrichoanal syndrome [RCV001166081]\|not provided [RCV001859074]	uncertain significance	9	14789073	14789073	Human	1	alternate_id
28886344	CV901643	single nucleotide variant	NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys)	FREM1-related disorder [RCV003928770]\|Oculotrichoanal syndrome [RCV001169036]\|not provided [RCV001873561]	likely benign\|uncertain significance	9	14806789	14806789	Human	1	alternate_id
597714744	CV3726345	single nucleotide variant	NM_001379081.2(FREM1):c.4872C>G (p.Asp1624Glu)	Oculotrichoanal syndrome [RCV005049049]	uncertain significance	9	14770792	14770792	Human	3	name
597714764	CV3726351	single nucleotide variant	NM_001379081.2(FREM1):c.4707G>T (p.Gln1569His)	Oculotrichoanal syndrome [RCV005049051]	uncertain significance	9	14775939	14775939	Human	3	name

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