Snip Variant Search Result - Rat Genome Database

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247 records found for search term Snip

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
127308694	CV1153570	single nucleotide variant	NM_024700.4(SNIP1):c.328-3T>C	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV001810054]\|not provided [RCV001517595]	benign	1	37540758	37540758	Human	1	name
151794048	CV1390393	single nucleotide variant	NM_024700.4(SNIP1):c.327+6T>C	not provided [RCV001952315]	uncertain significance	1	37552639	37552639	Human		name
152076031	CV1542712	single nucleotide variant	NM_024700.4(SNIP1):c.224+7G>C	not provided [RCV002130230]	likely benign	1	37553999	37553999	Human		name
152033686	CV1610423	deletion	NM_024700.4(SNIP1):c.927-8del	not provided [RCV002124977]	benign	1	37538020	37538020	Human		name
152026188	CV1666252	single nucleotide variant	NM_024700.4(SNIP1):c.927-5G>T	not provided [RCV002084715]	likely benign	1	37538017	37538017	Human		name
156018766	CV2020647	single nucleotide variant	NM_024700.4(SNIP1):c.927-4C>T	not provided [RCV002735274]	likely benign	1	37538016	37538016	Human		name
156367077	CV2116754	single nucleotide variant	NM_024700.4(SNIP1):c.224+5G>C	not provided [RCV002942033]	uncertain significance	1	37554001	37554001	Human		name
156042420	CV2188037	single nucleotide variant	NM_024700.4(SNIP1):c.927-5G>A	not provided [RCV003036621]	likely benign	1	37538017	37538017	Human		name
402496497	CV2875207	single nucleotide variant	NM_024700.4(SNIP1):c.327+5G>C	not provided [RCV003545380]	uncertain significance	1	37552640	37552640	Human		name
405125195	CV2958200	single nucleotide variant	NM_024700.4(SNIP1):c.224+7G>T	not provided [RCV003667789]	likely benign	1	37553999	37553999	Human		name
402490333	CV3014857	single nucleotide variant	NM_024700.4(SNIP1):c.327+8G>T	not provided [RCV003687412]	likely benign	1	37552637	37552637	Human		name
15199851	CV730003	single nucleotide variant	NM_024700.4(SNIP1):c.926+7A>T	not provided [RCV000890748]	likely benign	1	37540150	37540150	Human		name
152156586	CV1615801	single nucleotide variant	NM_024700.4(SNIP1):c.224+12A>C	not provided [RCV002158937]	likely benign	1	37553994	37553994	Human		name
152030936	CV1622416	single nucleotide variant	NM_024700.4(SNIP1):c.328-18A>T	not provided [RCV002186591]	likely benign	1	37540773	37540773	Human		name
156392720	CV1869690	single nucleotide variant	NM_024700.4(SNIP1):c.927-14T>C	not provided [RCV003051503]	likely benign	1	37538026	37538026	Human		name
156266630	CV1993959	single nucleotide variant	NM_024700.4(SNIP1):c.927-15C>T	not provided [RCV002646394]	likely benign	1	37538027	37538027	Human		name
156216676	CV2039157	single nucleotide variant	NM_024700.4(SNIP1):c.927-13T>C	not provided [RCV002766827]	likely benign	1	37538025	37538025	Human		name
402490345	CV3014858	insertion	NM_024700.4(SNIP1):c.327+6_327+7insCCTCACCACTCAACAGTCAAAGTGAAGCACTCAACATCAAA	not provided [RCV003687413]	likely benign	1	37552638	37552639	Human		name
127319689	CV1153572	single nucleotide variant	NM_024700.4(SNIP1):c.84G>A (p.Val28=)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV001810062]\|SNIP1-related disorder [RCV003983957]\|not provided [RCV001522242]	benign	1	37554146	37554146	Human	1	name , trait , alternate_id
8568536	CV39674	single nucleotide variant	NM_024700.4(SNIP1):c.1097A>G (p.Glu366Gly)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV000023695]\|SNIP1-related disorder [RCV004758597]\|not provided [RCV001219947]\|not specified [RCV004018669]	pathogenic\|likely pathogenic\|uncertain significance	1	37537842	37537842	Human	1	name , trait , alternate_id
15149847	CV696711	single nucleotide variant	NM_024700.4(SNIP1):c.579T>G (p.Asn193Lys)	SNIP1-related disorder [RCV003933229]\|not provided [RCV000945383]	benign\|likely benign	1	37540504	37540504	Human	1	name , trait , alternate_id
15154775	CV696713	single nucleotide variant	NM_024700.4(SNIP1):c.347G>A (p.Arg116Gln)	SNIP1-related disorder [RCV003925867]\|not provided [RCV000946356]	likely benign	1	37540736	37540736	Human	1	name , trait , alternate_id
15131958	CV707396	single nucleotide variant	NM_024700.4(SNIP1):c.104G>A (p.Ser35Asn)	SNIP1-related disorder [RCV003943136]\|not provided [RCV000964695]	likely benign	1	37554126	37554126	Human	1	name , trait , alternate_id
152106741	CV1527421	single nucleotide variant	NM_024700.4(SNIP1):c.48C>T (p.His16=)	not provided [RCV002079707]	likely benign	1	37554182	37554182	Human		name
405025815	CV3079160	single nucleotide variant	NM_024700.4(SNIP1):c.99T>A (p.Arg33=)	not provided [RCV003738777]	likely benign	1	37554131	37554131	Human		name
597957825	CV3848961	single nucleotide variant	NM_024700.4(SNIP1):c.57G>T (p.Gly19=)	not provided [RCV005191962]	likely benign	1	37554173	37554173	Human		name
127308986	CV1153571	single nucleotide variant	NM_024700.4(SNIP1):c.186C>T (p.Arg62=)	not provided [RCV001517714]	benign	1	37554044	37554044	Human		name
152081184	CV1525981	single nucleotide variant	NM_024700.4(SNIP1):c.213A>G (p.Arg71=)	not provided [RCV002170555]	likely benign	1	37554017	37554017	Human		name
152158550	CV1542029	single nucleotide variant	NM_024700.4(SNIP1):c.126C>T (p.Ala42=)	not provided [RCV002103346]	likely benign	1	37554104	37554104	Human		name
152079606	CV1632464	single nucleotide variant	NM_024700.4(SNIP1):c.228C>T (p.Ser76=)	not provided [RCV002130662]	likely benign	1	37552744	37552744	Human		name
152143040	CV1640747	single nucleotide variant	NM_024700.4(SNIP1):c.258G>A (p.Gly86=)	not provided [RCV002178307]	likely benign	1	37552714	37552714	Human		name
156449487	CV1945085	single nucleotide variant	NM_024700.4(SNIP1):c.147C>T (p.Ser49=)	not provided [RCV003121609]	likely benign	1	37554083	37554083	Human		name
156401794	CV1989421	single nucleotide variant	NM_024700.4(SNIP1):c.123C>T (p.Pro41=)	not provided [RCV002636040]	likely benign	1	37554107	37554107	Human		name
156131479	CV2169169	single nucleotide variant	NM_024700.4(SNIP1):c.291C>T (p.Asn97=)	not provided [RCV003022193]	likely benign	1	37552681	37552681	Human		name
405231771	CV2895751	single nucleotide variant	NM_024700.4(SNIP1):c.159G>C (p.Pro53=)	not provided [RCV003555576]	likely benign	1	37554071	37554071	Human		name
405207879	CV3064728	single nucleotide variant	NM_024700.4(SNIP1):c.180G>A (p.Pro60=)	not provided [RCV003731571]	likely benign	1	37554050	37554050	Human		name
405242655	CV3077123	single nucleotide variant	NM_024700.4(SNIP1):c.22C>T (p.Arg8Trp)	not provided [RCV003737619]	uncertain significance	1	37554208	37554208	Human		name
405194961	CV3128634	single nucleotide variant	NM_024700.4(SNIP1):c.114C>T (p.Val38=)	not provided [RCV003821372]	likely benign	1	37554116	37554116	Human		name
597956076	CV3809615	single nucleotide variant	NM_024700.4(SNIP1):c.123C>G (p.Pro41=)	not provided [RCV005162341]	likely benign	1	37554107	37554107	Human		name
597970288	CV3832423	single nucleotide variant	NM_024700.4(SNIP1):c.270G>A (p.Lys90=)	not provided [RCV005166502]	likely benign	1	37552702	37552702	Human		name
597971917	CV3833240	single nucleotide variant	NM_024700.4(SNIP1):c.180G>T (p.Pro60=)	not provided [RCV005167137]	likely benign	1	37554050	37554050	Human		name
597902466	CV3835897	single nucleotide variant	NM_024700.4(SNIP1):c.23G>T (p.Arg8Leu)	not provided [RCV005181432]	uncertain significance	1	37554207	37554207	Human		name
151860003	CV1337531	single nucleotide variant	NM_024700.4(SNIP1):c.31G>C (p.Gly11Arg)	not provided [RCV001923879]	uncertain significance	1	37554199	37554199	Human		name
151855931	CV1356309	single nucleotide variant	NM_024700.4(SNIP1):c.59A>G (p.Asp20Gly)	not provided [RCV001923392]\|not specified [RCV004671523]	uncertain significance	1	37554171	37554171	Human		name
151833177	CV1416467	single nucleotide variant	NM_024700.4(SNIP1):c.95A>C (p.Glu32Ala)	not provided [RCV002014508]	uncertain significance	1	37554135	37554135	Human		name
151743108	CV1431026	single nucleotide variant	NM_024700.4(SNIP1):c.921A>G (p.Gln307=)	not provided [RCV001893467]	likely benign\|uncertain significance	1	37540162	37540162	Human		name
151716465	CV1442081	single nucleotide variant	NM_024700.4(SNIP1):c.41G>T (p.Arg14Leu)	not provided [RCV002003002]	uncertain significance	1	37554189	37554189	Human		name
151887012	CV1478081	single nucleotide variant	NM_024700.4(SNIP1):c.633C>T (p.Gly211=)	not provided [RCV002038095]	likely benign\|uncertain significance	1	37540450	37540450	Human		name
151814627	CV1491340	single nucleotide variant	NM_024700.4(SNIP1):c.423C>T (p.Asp141=)	not provided [RCV001975114]	likely benign	1	37540660	37540660	Human		name
152038001	CV1524091	single nucleotide variant	NM_024700.4(SNIP1):c.912G>A (p.Ala304=)	not provided [RCV002125660]	likely benign	1	37540171	37540171	Human		name
152038038	CV1525019	single nucleotide variant	NM_024700.4(SNIP1):c.981C>T (p.Tyr327=)	not provided [RCV002165268]	likely benign	1	37537958	37537958	Human		name
152097523	CV1531514	single nucleotide variant	NM_024700.4(SNIP1):c.429C>T (p.His143=)	not provided [RCV002213565]	likely benign	1	37540654	37540654	Human		name
152113884	CV1559180	single nucleotide variant	NM_024700.4(SNIP1):c.879A>G (p.Pro293=)	not provided [RCV002174674]	benign	1	37540204	37540204	Human		name
152171276	CV1562267	single nucleotide variant	NM_024700.4(SNIP1):c.456G>A (p.Thr152=)	not provided [RCV002183446]	likely benign	1	37540627	37540627	Human		name
152090555	CV1563292	single nucleotide variant	NM_024700.4(SNIP1):c.657C>T (p.Pro219=)	not provided [RCV002114019]	likely benign	1	37540426	37540426	Human		name
152174554	CV1591181	single nucleotide variant	NM_024700.4(SNIP1):c.708C>T (p.Thr236=)	not provided [RCV002184551]	likely benign	1	37540375	37540375	Human		name
152052102	CV1607186	single nucleotide variant	NM_024700.4(SNIP1):c.591T>C (p.Gly197=)	not provided [RCV002109102]	likely benign	1	37540492	37540492	Human		name
152091635	CV1616342	single nucleotide variant	NM_024700.4(SNIP1):c.840G>A (p.Ala280=)	not provided [RCV002114156]	likely benign	1	37540243	37540243	Human		name
152132582	CV1630215	single nucleotide variant	NM_024700.4(SNIP1):c.600T>C (p.Ser200=)	not provided [RCV002176997]	likely benign	1	37540483	37540483	Human		name
152065535	CV1654567	single nucleotide variant	NM_024700.4(SNIP1):c.462C>T (p.Asn154=)	not provided [RCV002191108]	likely benign	1	37540621	37540621	Human		name
152114165	CV1659581	single nucleotide variant	NM_024700.4(SNIP1):c.582C>T (p.Asp194=)	not provided [RCV002080660]	likely benign	1	37540501	37540501	Human		name
156336342	CV1906066	single nucleotide variant	NM_024700.4(SNIP1):c.348G>A (p.Arg116=)	not provided [RCV003090088]	likely benign	1	37540735	37540735	Human		name
156040968	CV1926853	single nucleotide variant	NM_024700.4(SNIP1):c.92A>C (p.Gln31Pro)	not provided [RCV002637572]	uncertain significance	1	37554138	37554138	Human		name
156172953	CV1930266	single nucleotide variant	NM_024700.4(SNIP1):c.744G>A (p.Glu248=)	not provided [RCV002624772]	likely benign	1	37540339	37540339	Human		name
156266241	CV2030471	single nucleotide variant	NM_024700.4(SNIP1):c.765C>G (p.Pro255=)	not provided [RCV002746481]	likely benign	1	37540318	37540318	Human		name
402517081	CV2874561	single nucleotide variant	NM_024700.4(SNIP1):c.372C>T (p.His124=)	not provided [RCV003547480]	likely benign	1	37540711	37540711	Human		name
405137127	CV2907131	single nucleotide variant	NM_024700.4(SNIP1):c.40C>T (p.Arg14Ter)	not provided [RCV003560539]	uncertain significance	1	37554190	37554190	Human		name
405114055	CV2948822	single nucleotide variant	NM_024700.4(SNIP1):c.513C>T (p.Asn171=)	not provided [RCV003666696]	likely benign	1	37540570	37540570	Human		name
405247360	CV2966770	single nucleotide variant	NM_024700.4(SNIP1):c.85G>T (p.Val29Leu)	not provided [RCV003685659]	uncertain significance	1	37554145	37554145	Human		name
405247827	CV2976889	single nucleotide variant	NM_024700.4(SNIP1):c.909T>C (p.His303=)	not provided [RCV003685774]	likely benign	1	37540174	37540174	Human		name
405238432	CV3078041	single nucleotide variant	NM_024700.4(SNIP1):c.798T>C (p.Asn266=)	not provided [RCV003736347]	likely benign	1	37540285	37540285	Human		name
405170693	CV3122504	single nucleotide variant	NM_024700.4(SNIP1):c.514C>T (p.Leu172=)	not provided [RCV003819093]	likely benign	1	37540569	37540569	Human		name
597940689	CV3768978	single nucleotide variant	NM_024700.4(SNIP1):c.375G>A (p.Arg125=)	not provided [RCV005118473]	likely benign	1	37540708	37540708	Human		name
597962676	CV3841055	single nucleotide variant	NM_024700.4(SNIP1):c.723T>G (p.Gly241=)	not provided [RCV005193348]	likely benign	1	37540360	37540360	Human		name
597948628	CV3852539	single nucleotide variant	NM_024700.4(SNIP1):c.60C>G (p.Asp20Glu)	not provided [RCV005189617]	uncertain significance	1	37554170	37554170	Human		name
597869311	CV3858418	single nucleotide variant	NM_024700.4(SNIP1):c.903G>A (p.Lys301=)	not provided [RCV005197161]	likely benign	1	37540180	37540180	Human		name
598171240	CV3915440	single nucleotide variant	NM_024700.4(SNIP1):c.77G>T (p.Gly26Val)	not specified [RCV005284798]	uncertain significance	1	37554153	37554153	Human		name
15163900	CV707394	single nucleotide variant	NM_024700.4(SNIP1):c.975G>A (p.Lys325=)	not provided [RCV000970590]	likely benign	1	37537964	37537964	Human		name
15143458	CV707395	single nucleotide variant	NM_024700.4(SNIP1):c.378A>G (p.Glu126=)	not provided [RCV000966670]	benign	1	37540705	37540705	Human		name
15159682	CV732425	single nucleotide variant	NM_024700.4(SNIP1):c.891G>A (p.Pro297=)	not provided [RCV000902987]	likely benign	1	37540192	37540192	Human		name
15165957	CV732426	single nucleotide variant	NM_024700.4(SNIP1):c.594C>T (p.Gly198=)	not provided [RCV000904337]	likely benign	1	37540489	37540489	Human		name
151834154	CV1345088	single nucleotide variant	NM_024700.4(SNIP1):c.194A>G (p.His65Arg)	not provided [RCV001880599]	uncertain significance	1	37554036	37554036	Human		name
151891660	CV1368128	single nucleotide variant	NM_024700.4(SNIP1):c.232C>G (p.Pro78Ala)	not provided [RCV001888797]\|not specified [RCV004041357]	likely benign\|uncertain significance	1	37552740	37552740	Human		name
151871510	CV1392767	single nucleotide variant	NM_024700.4(SNIP1):c.185G>T (p.Arg62Leu)	not provided [RCV001925282]	uncertain significance	1	37554045	37554045	Human		name
151890121	CV1394720	single nucleotide variant	NM_024700.4(SNIP1):c.184C>T (p.Arg62Cys)	not provided [RCV001888329]	uncertain significance	1	37554046	37554046	Human		name
151882522	CV1398980	single nucleotide variant	NM_024700.4(SNIP1):c.199G>A (p.Gly67Arg)	not provided [RCV001961938]	uncertain significance	1	37554031	37554031	Human		name
151892106	CV1422730	single nucleotide variant	NM_024700.4(SNIP1):c.149G>C (p.Gly50Ala)	not provided [RCV001943765]	uncertain significance	1	37554081	37554081	Human		name
151842166	CV1423908	single nucleotide variant	NM_024700.4(SNIP1):c.161C>T (p.Ser54Phe)	not provided [RCV001977829]	uncertain significance	1	37554069	37554069	Human		name
151715512	CV1472610	single nucleotide variant	NM_024700.4(SNIP1):c.212G>A (p.Arg71Gln)	not provided [RCV002039268]	uncertain significance	1	37554018	37554018	Human		name
151833172	CV1480746	single nucleotide variant	NM_024700.4(SNIP1):c.133C>T (p.Arg45Cys)	not provided [RCV001935263]	uncertain significance	1	37554097	37554097	Human		name
151720356	CV1498320	single nucleotide variant	NM_024700.4(SNIP1):c.269A>C (p.Lys90Thr)	not provided [RCV001965879]	uncertain significance	1	37552703	37552703	Human		name
151784099	CV1508428	single nucleotide variant	NM_024700.4(SNIP1):c.277C>A (p.Arg93Ser)	not provided [RCV002010007]	uncertain significance	1	37552695	37552695	Human		name
152065262	CV1525943	single nucleotide variant	NM_024700.4(SNIP1):c.1119G>A (p.Ser373=)	not provided [RCV002128884]	likely benign	1	37537820	37537820	Human		name
152176061	CV1562239	single nucleotide variant	NM_024700.4(SNIP1):c.1122G>A (p.Ser374=)	not provided [RCV002164201]	likely benign	1	37537817	37537817	Human		name
152163712	CV1575494	single nucleotide variant	NM_024700.4(SNIP1):c.1146A>G (p.Lys382=)	not provided [RCV002181386]	likely benign	1	37537793	37537793	Human		name
152144193	CV1576338	single nucleotide variant	NM_024700.4(SNIP1):c.1152C>T (p.Asp384=)	not provided [RCV002101203]	likely benign	1	37537787	37537787	Human		name
152130700	CV1597807	single nucleotide variant	NM_024700.4(SNIP1):c.1101C>T (p.Tyr367=)	not provided [RCV002176762]	likely benign	1	37537838	37537838	Human		name
155979629	CV1882954	single nucleotide variant	NM_024700.4(SNIP1):c.264A>C (p.Arg88Ser)	not provided [RCV003075588]	uncertain significance	1	37552708	37552708	Human		name
156123480	CV1892722	single nucleotide variant	NM_024700.4(SNIP1):c.188C>T (p.Ser63Leu)	not provided [RCV003081540]	uncertain significance	1	37554042	37554042	Human		name
156327235	CV1956323	single nucleotide variant	NM_024700.4(SNIP1):c.278G>A (p.Arg93His)	not provided [RCV002579794]	uncertain significance	1	37552694	37552694	Human		name
156079835	CV1975780	single nucleotide variant	NM_024700.4(SNIP1):c.185G>A (p.Arg62His)	not provided [RCV002621506]\|not specified [RCV004065771]	uncertain significance	1	37554045	37554045	Human		name
156245456	CV1996548	single nucleotide variant	NM_024700.4(SNIP1):c.1050T>C (p.Tyr350=)	not provided [RCV002668076]	likely benign	1	37537889	37537889	Human		name
156124505	CV2021181	single nucleotide variant	NM_024700.4(SNIP1):c.1113T>C (p.His371=)	not provided [RCV002740327]	likely benign	1	37537826	37537826	Human		name
156101466	CV2042209	single nucleotide variant	NM_024700.4(SNIP1):c.1059A>G (p.Lys353=)	not provided [RCV002761340]	likely benign	1	37537880	37537880	Human		name
156380902	CV2060795	deletion	NM_024700.4(SNIP1):c.412del (p.Ser138fs)	not provided [RCV002815080]	uncertain significance	1	37540671	37540671	Human		name
156127289	CV2072804	single nucleotide variant	NM_024700.4(SNIP1):c.214G>T (p.Gly72Ter)	not provided [RCV002825534]	uncertain significance	1	37554016	37554016	Human		name
156294591	CV2073409	single nucleotide variant	NM_024700.4(SNIP1):c.214G>A (p.Gly72Arg)	not provided [RCV002833343]	uncertain significance	1	37554016	37554016	Human		name
156156755	CV2118231	single nucleotide variant	NM_024700.4(SNIP1):c.196C>T (p.Arg66Cys)	not provided [RCV002929096]	uncertain significance	1	37554034	37554034	Human		name
155936953	CV2135015	single nucleotide variant	NM_024700.4(SNIP1):c.121C>T (p.Pro41Ser)	not provided [RCV002993798]	uncertain significance	1	37554109	37554109	Human		name
156036566	CV2143234	single nucleotide variant	NM_024700.4(SNIP1):c.1119G>T (p.Ser373=)	not provided [RCV002999354]	likely benign	1	37537820	37537820	Human		name
156006894	CV2163032	single nucleotide variant	NM_024700.4(SNIP1):c.178C>T (p.Pro60Ser)	not provided [RCV003017539]	uncertain significance	1	37554052	37554052	Human		name
401761318	CV2726714	single nucleotide variant	NM_024700.4(SNIP1):c.156C>G (p.Ser52Arg)	not specified [RCV004323047]	uncertain significance	1	37554074	37554074	Human		name
402481718	CV2860473	single nucleotide variant	NM_024700.4(SNIP1):c.188C>G (p.Ser63Trp)	not provided [RCV003544101]	uncertain significance	1	37554042	37554042	Human		name
402521636	CV2899999	single nucleotide variant	NM_024700.4(SNIP1):c.277C>T (p.Arg93Cys)	not provided [RCV003575903]	uncertain significance	1	37552695	37552695	Human		name
405248899	CV2987255	single nucleotide variant	NM_024700.4(SNIP1):c.193C>T (p.His65Tyr)	not provided [RCV003686070]	uncertain significance	1	37554037	37554037	Human		name
405035395	CV3006794	single nucleotide variant	NM_024700.4(SNIP1):c.1170G>A (p.Glu390=)	not provided [RCV003695838]	likely benign	1	37537769	37537769	Human		name
402499927	CV3035219	single nucleotide variant	NM_024700.4(SNIP1):c.293G>A (p.Arg98Gln)	not provided [RCV003714631]	uncertain significance	1	37552679	37552679	Human		name
405184320	CV3057771	single nucleotide variant	NM_024700.4(SNIP1):c.1071A>T (p.Val357=)	not provided [RCV003729010]	likely benign	1	37537868	37537868	Human		name
405234423	CV3073920	single nucleotide variant	NM_024700.4(SNIP1):c.136C>T (p.Pro46Ser)	not provided [RCV003735615]	uncertain significance	1	37554094	37554094	Human		name
405139278	CV3125531	single nucleotide variant	NM_024700.4(SNIP1):c.175G>C (p.Glu59Gln)	not provided [RCV003816638]	uncertain significance	1	37554055	37554055	Human		name
597744847	CV3607040	single nucleotide variant	NM_024700.4(SNIP1):c.115G>T (p.Ala39Ser)	not specified [RCV004865549]	uncertain significance	1	37554115	37554115	Human		name
597740780	CV3607042	single nucleotide variant	NM_024700.4(SNIP1):c.158C>A (p.Pro53Gln)	not specified [RCV004864726]	uncertain significance	1	37554072	37554072	Human		name
597903676	CV3784517	single nucleotide variant	NM_024700.4(SNIP1):c.110A>G (p.Glu37Gly)	not provided [RCV005127569]	uncertain significance	1	37554120	37554120	Human		name
597869773	CV3803528	single nucleotide variant	NM_024700.4(SNIP1):c.125C>T (p.Ala42Val)	not provided [RCV005148126]	uncertain significance	1	37554105	37554105	Human		name
597942907	CV3816350	single nucleotide variant	NM_024700.4(SNIP1):c.127C>T (p.His43Tyr)	not provided [RCV005159411]	uncertain significance	1	37554103	37554103	Human		name
597961580	CV3840777	single nucleotide variant	NM_024700.4(SNIP1):c.1038A>G (p.Pro346=)	not provided [RCV005193070]	likely benign	1	37537901	37537901	Human		name
15176754	CV696714	single nucleotide variant	NM_024700.4(SNIP1):c.174C>A (p.Ser58Arg)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV001836920]\|not provided [RCV000950897]	likely benign\|uncertain significance	1	37554056	37554056	Human	1	name
126909279	CV1040081	single nucleotide variant	NM_024700.4(SNIP1):c.484G>T (p.Gly162Cys)	not provided [RCV001368363]	uncertain significance	1	37540599	37540599	Human		name
151816110	CV1342058	single nucleotide variant	NM_024700.4(SNIP1):c.671C>G (p.Pro224Arg)	not provided [RCV001975268]	uncertain significance	1	37540412	37540412	Human		name
151891111	CV1344636	single nucleotide variant	NM_024700.4(SNIP1):c.337G>T (p.Asp113Tyr)	not provided [RCV001943249]	uncertain significance	1	37540746	37540746	Human		name
151811487	CV1345332	single nucleotide variant	NM_024700.4(SNIP1):c.356G>A (p.Arg119Gln)	not provided [RCV001878315]	uncertain significance	1	37540727	37540727	Human		name
151798532	CV1347320	single nucleotide variant	NM_024700.4(SNIP1):c.583G>A (p.Val195Ile)	not provided [RCV002027872]\|not specified [RCV004044744]	likely benign\|uncertain significance	1	37540500	37540500	Human		name
151802730	CV1354398	single nucleotide variant	NM_024700.4(SNIP1):c.361G>T (p.Asp121Tyr)	not provided [RCV001867273]	uncertain significance	1	37540722	37540722	Human		name
151722244	CV1361579	single nucleotide variant	NM_024700.4(SNIP1):c.584T>G (p.Val195Gly)	not provided [RCV001945083]\|not specified [RCV004043403]	uncertain significance	1	37540499	37540499	Human		name
151725862	CV1365035	single nucleotide variant	NM_024700.4(SNIP1):c.496G>A (p.Asp166Asn)	not provided [RCV002040667]	uncertain significance	1	37540587	37540587	Human		name
151851538	CV1366031	single nucleotide variant	NM_024700.4(SNIP1):c.595G>A (p.Gly199Ser)	not provided [RCV001922853]	uncertain significance	1	37540488	37540488	Human		name
151840975	CV1367980	single nucleotide variant	NM_024700.4(SNIP1):c.430C>T (p.Arg144Trp)	not provided [RCV001902835]\|not specified [RCV004041353]	uncertain significance	1	37540653	37540653	Human		name
151800105	CV1373066	single nucleotide variant	NM_024700.4(SNIP1):c.863G>A (p.Arg288His)	not provided [RCV001932228]	uncertain significance	1	37540220	37540220	Human		name
151863493	CV1374424	single nucleotide variant	NM_024700.4(SNIP1):c.500G>A (p.Arg167Gln)	not provided [RCV001884242]	uncertain significance	1	37540583	37540583	Human		name
151739301	CV1381772	single nucleotide variant	NM_024700.4(SNIP1):c.545A>G (p.Tyr182Cys)	not provided [RCV001967988]	uncertain significance	1	37540538	37540538	Human		name
151742534	CV1390891	single nucleotide variant	NM_024700.4(SNIP1):c.691G>A (p.Ala231Thr)	not provided [RCV001985377]	uncertain significance	1	37540392	37540392	Human		name
151743311	CV1391062	single nucleotide variant	NM_024700.4(SNIP1):c.364C>G (p.Arg122Gly)	not provided [RCV001985456]	uncertain significance	1	37540719	37540719	Human		name
151754741	CV1391411	single nucleotide variant	NM_024700.4(SNIP1):c.622C>T (p.Arg208Trp)	not provided [RCV001969556]	uncertain significance	1	37540461	37540461	Human		name
151882517	CV1398979	single nucleotide variant	NM_024700.4(SNIP1):c.860G>A (p.Arg287His)	not provided [RCV001961937]	uncertain significance	1	37540223	37540223	Human		name
151790351	CV1399822	single nucleotide variant	NM_024700.4(SNIP1):c.862C>T (p.Arg288Cys)	not provided [RCV001916757]\|not specified [RCV004044094]	uncertain significance	1	37540221	37540221	Human		name
151856061	CV1401823	single nucleotide variant	NM_024700.4(SNIP1):c.562G>A (p.Glu188Lys)	not provided [RCV002017192]	uncertain significance	1	37540521	37540521	Human		name
151772838	CV1402735	single nucleotide variant	NM_024700.4(SNIP1):c.692C>T (p.Ala231Val)	not provided [RCV001896511]	uncertain significance	1	37540391	37540391	Human		name
151799708	CV1403915	single nucleotide variant	NM_024700.4(SNIP1):c.911C>T (p.Ala304Val)	not provided [RCV001973793]	uncertain significance	1	37540172	37540172	Human		name
151856866	CV1410356	single nucleotide variant	NM_024700.4(SNIP1):c.364C>T (p.Arg122Trp)	not provided [RCV001996644]	uncertain significance	1	37540719	37540719	Human		name
151868707	CV1419316	single nucleotide variant	NM_024700.4(SNIP1):c.880A>G (p.Ile294Val)	not provided [RCV001960151]	uncertain significance	1	37540203	37540203	Human		name
151795480	CV1421254	single nucleotide variant	NM_024700.4(SNIP1):c.355C>T (p.Arg119Trp)	not provided [RCV001917216]\|not specified [RCV004857831]	uncertain significance	1	37540728	37540728	Human		name
151731706	CV1421387	single nucleotide variant	NM_024700.4(SNIP1):c.428A>G (p.His143Arg)	not provided [RCV001892318]	uncertain significance	1	37540655	37540655	Human		name
151884921	CV1425147	single nucleotide variant	NM_024700.4(SNIP1):c.484G>A (p.Gly162Ser)	not provided [RCV001887248]	uncertain significance	1	37540599	37540599	Human		name
151817661	CV1427466	single nucleotide variant	NM_024700.4(SNIP1):c.806T>C (p.Val269Ala)	not provided [RCV001878907]	uncertain significance	1	37540277	37540277	Human		name
151806244	CV1440799	single nucleotide variant	NM_024700.4(SNIP1):c.418C>G (p.Arg140Gly)	not provided [RCV001932764]	uncertain significance	1	37540665	37540665	Human		name
151754905	CV1453901	single nucleotide variant	NM_024700.4(SNIP1):c.472G>A (p.Gly158Arg)	not provided [RCV001913355]	uncertain significance	1	37540611	37540611	Human		name
151731912	CV1454358	single nucleotide variant	NM_024700.4(SNIP1):c.758G>T (p.Arg253Leu)	not provided [RCV001967201]	uncertain significance	1	37540325	37540325	Human		name
151799884	CV1479924	single nucleotide variant	NM_024700.4(SNIP1):c.536G>A (p.Arg179Gln)	not provided [RCV001898965]	uncertain significance	1	37540547	37540547	Human		name
151749384	CV1487542	single nucleotide variant	NM_024700.4(SNIP1):c.419G>A (p.Arg140Gln)	not provided [RCV001947981]\|not specified [RCV004867758]	uncertain significance	1	37540664	37540664	Human		name
151761735	CV1496481	single nucleotide variant	NM_024700.4(SNIP1):c.339T>A (p.Asp113Glu)	not provided [RCV001895404]\|not specified [RCV004857832]	uncertain significance	1	37540744	37540744	Human		name
151809926	CV1497133	single nucleotide variant	NM_024700.4(SNIP1):c.346C>T (p.Arg116Trp)	not provided [RCV001974671]	uncertain significance	1	37540737	37540737	Human		name
151746332	CV1511292	single nucleotide variant	NM_024700.4(SNIP1):c.719G>A (p.Arg240Gln)	not provided [RCV001968680]	uncertain significance	1	37540364	37540364	Human		name
152073465	CV1598928	single nucleotide variant	NM_024700.4(SNIP1):c.560G>A (p.Arg187Gln)	not provided [RCV002148399]	likely benign	1	37540523	37540523	Human		name
155749074	CV1777521	single nucleotide variant	NM_024700.4(SNIP1):c.937T>C (p.Tyr313His)	not provided [RCV002304270]	uncertain significance	1	37538002	37538002	Human		name
155693394	CV1779525	single nucleotide variant	NM_024700.4(SNIP1):c.635A>G (p.Asn212Ser)	not provided [RCV002295043]	uncertain significance	1	37540448	37540448	Human		name
156038392	CV1890821	single nucleotide variant	NM_024700.4(SNIP1):c.724G>A (p.Val242Ile)	not provided [RCV003078412]	uncertain significance	1	37540359	37540359	Human		name
156058995	CV1892241	single nucleotide variant	NM_024700.4(SNIP1):c.674G>A (p.Ser225Asn)	not provided [RCV003079153]\|not specified [RCV004071715]	uncertain significance	1	37540409	37540409	Human		name
156411078	CV1892903	single nucleotide variant	NM_024700.4(SNIP1):c.566A>G (p.His189Arg)	not provided [RCV003072325]	uncertain significance	1	37540517	37540517	Human		name
156104252	CV1907326	single nucleotide variant	NM_024700.4(SNIP1):c.620C>T (p.Pro207Leu)	not provided [RCV003080721]	uncertain significance	1	37540463	37540463	Human		name
156419280	CV1923206	single nucleotide variant	NM_024700.4(SNIP1):c.494G>A (p.Arg165Gln)	not provided [RCV002612506]	uncertain significance	1	37540589	37540589	Human		name
156351369	CV1926664	single nucleotide variant	NM_024700.4(SNIP1):c.652G>A (p.Val218Met)	not provided [RCV002650914]	uncertain significance	1	37540431	37540431	Human		name
155903533	CV1975824	single nucleotide variant	NM_024700.4(SNIP1):c.436C>T (p.His146Tyr)	not provided [RCV002613536]\|not specified [RCV005281197]	uncertain significance	1	37540647	37540647	Human		name
156251468	CV1984803	single nucleotide variant	NM_024700.4(SNIP1):c.788C>T (p.Pro263Leu)	not provided [RCV002645911]	uncertain significance	1	37540295	37540295	Human		name
156193818	CV2024255	single nucleotide variant	NM_024700.4(SNIP1):c.944G>A (p.Arg315His)	not provided [RCV002711175]	uncertain significance	1	37537995	37537995	Human		name
155944658	CV2032609	single nucleotide variant	NM_024700.4(SNIP1):c.590G>T (p.Gly197Val)	not provided [RCV002730332]	uncertain significance	1	37540493	37540493	Human		name
156002727	CV2045666	single nucleotide variant	NM_024700.4(SNIP1):c.785A>T (p.Tyr262Phe)	not provided [RCV002756287]	uncertain significance	1	37540298	37540298	Human		name
156246220	CV2053335	single nucleotide variant	NM_024700.4(SNIP1):c.316A>T (p.Lys106Ter)	not provided [RCV002791530]	uncertain significance	1	37552656	37552656	Human		name
156247444	CV2101751	single nucleotide variant	NM_024700.4(SNIP1):c.931G>A (p.Val311Met)	not provided [RCV002895139]	uncertain significance	1	37538008	37538008	Human		name
156268522	CV2102738	single nucleotide variant	NM_024700.4(SNIP1):c.396C>G (p.His132Gln)	not provided [RCV002895846]	likely benign	1	37540687	37540687	Human		name
155938679	CV2110526	single nucleotide variant	NM_024700.4(SNIP1):c.431G>A (p.Arg144Gln)	not provided [RCV002904317]	uncertain significance	1	37540652	37540652	Human		name
156075882	CV2321829	single nucleotide variant	NM_024700.4(SNIP1):c.965G>A (p.Arg322Gln)	not provided [RCV003546918]\|not specified [RCV004179814]	uncertain significance	1	37537974	37537974	Human		name
329388384	CV2466321	single nucleotide variant	NM_024700.4(SNIP1):c.412A>G (p.Ser138Gly)	not provided [RCV003779728]\|not specified [RCV004280243]	uncertain significance	1	37540671	37540671	Human		name
402474907	CV2863645	single nucleotide variant	NM_024700.4(SNIP1):c.556C>T (p.Arg186Ter)	not provided [RCV003543207]	uncertain significance	1	37540527	37540527	Human		name
405074693	CV2873170	single nucleotide variant	NM_024700.4(SNIP1):c.757C>T (p.Arg253Cys)	not provided [RCV003548744]	uncertain significance	1	37540326	37540326	Human		name
405236937	CV2884809	single nucleotide variant	NM_024700.4(SNIP1):c.557G>A (p.Arg186Gln)	not provided [RCV003556583]\|not specified [RCV005281418]	uncertain significance	1	37540526	37540526	Human		name
405152228	CV2888761	single nucleotide variant	NM_024700.4(SNIP1):c.418C>T (p.Arg140Trp)	not provided [RCV003561810]	uncertain significance	1	37540665	37540665	Human		name
405009806	CV2927061	single nucleotide variant	NM_024700.4(SNIP1):c.538G>A (p.Glu180Lys)	not provided [RCV003576605]	uncertain significance	1	37540545	37540545	Human		name
402488842	CV2928527	single nucleotide variant	NM_024700.4(SNIP1):c.330G>T (p.Glu110Asp)	not provided [RCV003572665]	uncertain significance	1	37540753	37540753	Human		name
402503938	CV2947407	single nucleotide variant	NM_024700.4(SNIP1):c.506C>T (p.Thr169Ile)	not provided [RCV003661887]	uncertain significance	1	37540577	37540577	Human		name
405100545	CV2947934	single nucleotide variant	NM_024700.4(SNIP1):c.712A>G (p.Thr238Ala)	not provided [RCV003665992]	uncertain significance	1	37540371	37540371	Human		name
405167082	CV2950872	single nucleotide variant	NM_024700.4(SNIP1):c.478G>A (p.Gly160Arg)	not provided [RCV003675119]	uncertain significance	1	37540605	37540605	Human		name
402482983	CV3036530	single nucleotide variant	NM_024700.4(SNIP1):c.391G>A (p.Glu131Lys)	not provided [RCV003712986]	uncertain significance	1	37540692	37540692	Human		name
405201647	CV3038394	single nucleotide variant	NM_024700.4(SNIP1):c.853C>T (p.Arg285Ter)	not provided [RCV003707500]	uncertain significance	1	37540230	37540230	Human		name
405046998	CV3071745	single nucleotide variant	NM_024700.4(SNIP1):c.823A>G (p.Ile275Val)	not provided [RCV003740327]	uncertain significance	1	37540260	37540260	Human		name
405056143	CV3138628	single nucleotide variant	NM_024700.4(SNIP1):c.818T>C (p.Met273Thr)	not provided [RCV003832473]	uncertain significance	1	37540265	37540265	Human		name
405065267	CV3148556	single nucleotide variant	NM_024700.4(SNIP1):c.305A>G (p.His102Arg)	not provided [RCV003850512]	uncertain significance	1	37552667	37552667	Human		name
405253532	CV3174504	single nucleotide variant	NM_024700.4(SNIP1):c.658G>A (p.Ala220Thr)	not provided [RCV003871134]	uncertain significance	1	37540425	37540425	Human		name
402474504	CV3182766	single nucleotide variant	NM_024700.4(SNIP1):c.760A>G (p.Ile254Val)	not provided [RCV003875009]	uncertain significance	1	37540323	37540323	Human		name
405709943	CV3225706	single nucleotide variant	NM_024700.4(SNIP1):c.794A>T (p.Lys265Ile)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV003990764]	uncertain significance	1	37540289	37540289	Human	1	name
405715060	CV3326229	single nucleotide variant	NM_024700.4(SNIP1):c.605C>T (p.Ser202Phe)	not specified [RCV004462372]	uncertain significance	1	37540478	37540478	Human		name
407427652	CV3410788	single nucleotide variant	NM_024700.4(SNIP1):c.445C>T (p.Gln149Ter)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV004586435]	likely pathogenic	1	37540638	37540638	Human	1	name
597740775	CV3607041	single nucleotide variant	NM_024700.4(SNIP1):c.493C>T (p.Arg165Trp)	not provided [RCV005107892]\|not specified [RCV004864725]	uncertain significance	1	37540590	37540590	Human		name
597744851	CV3607043	single nucleotide variant	NM_024700.4(SNIP1):c.779G>T (p.Arg260Leu)	not specified [RCV004865550]	uncertain significance	1	37540304	37540304	Human		name
597744856	CV3607044	single nucleotide variant	NM_024700.4(SNIP1):c.329A>G (p.Glu110Gly)	not specified [RCV004865551]	uncertain significance	1	37540754	37540754	Human		name
12848748	CV363791	single nucleotide variant	NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp)	not provided [RCV000417531]\|not specified [RCV003226291]	conflicting interpretations of pathogenicity\|uncertain significance	1	37540524	37540524	Human		name
597840045	CV3737141	single nucleotide variant	NM_024700.4(SNIP1):c.941C>T (p.Thr314Ile)	not provided [RCV005064621]	uncertain significance	1	37537998	37537998	Human		name
597940186	CV3757192	single nucleotide variant	NM_024700.4(SNIP1):c.365G>A (p.Arg122Gln)	not provided [RCV005077377]	uncertain significance	1	37540718	37540718	Human		name
597889200	CV3766360	single nucleotide variant	NM_024700.4(SNIP1):c.388C>G (p.Gln130Glu)	not provided [RCV005110477]	uncertain significance	1	37540695	37540695	Human		name
597887552	CV3787528	deletion	NM_024700.4(SNIP1):c.1064del (p.Lys355fs)	not provided [RCV005125094]	uncertain significance	1	37537875	37537875	Human		name
597905186	CV3803847	single nucleotide variant	NM_024700.4(SNIP1):c.454A>G (p.Thr152Ala)	not provided [RCV005153392]	uncertain significance	1	37540629	37540629	Human		name
597895411	CV3833674	single nucleotide variant	NM_024700.4(SNIP1):c.805G>A (p.Val269Met)	not provided [RCV005180366]	uncertain significance	1	37540278	37540278	Human		name
597940033	CV3836559	single nucleotide variant	NM_024700.4(SNIP1):c.569G>A (p.Arg190His)	not provided [RCV005187580]	uncertain significance	1	37540514	37540514	Human		name
597932718	CV3838081	single nucleotide variant	NM_024700.4(SNIP1):c.859C>T (p.Arg287Cys)	not provided [RCV005186050]	uncertain significance	1	37540224	37540224	Human		name
597905941	CV3853059	single nucleotide variant	NM_024700.4(SNIP1):c.749C>T (p.Pro250Leu)	not provided [RCV005202716]	uncertain significance	1	37540334	37540334	Human		name
598171244	CV3915441	single nucleotide variant	NM_024700.4(SNIP1):c.605C>A (p.Ser202Tyr)	not specified [RCV005284799]	uncertain significance	1	37540478	37540478	Human		name
598171248	CV3915442	single nucleotide variant	NM_024700.4(SNIP1):c.600T>G (p.Ser200Arg)	not specified [RCV005284800]	uncertain significance	1	37540483	37540483	Human		name
13610307	CV426647	single nucleotide variant	NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV002481593]\|Self-limited epilepsy with centrotemporal spikes [RCV000655967]\|not provided [RCV001857031]	pathogenic\|uncertain significance	1	37540752	37540752	Human	2	name
14702900	CV626366	single nucleotide variant	NM_024700.4(SNIP1):c.332G>A (p.Arg111His)	Predisposition to dissection [RCV000791270]\|not provided [RCV002535838]	uncertain significance	1	37540751	37540751	Human	1	name
15149876	CV696712	single nucleotide variant	NM_024700.4(SNIP1):c.568C>T (p.Arg190Cys)	not provided [RCV000945388]	benign	1	37540515	37540515	Human		name
15134441	CV780678	single nucleotide variant	NM_024700.4(SNIP1):c.521C>T (p.Ala174Val)	not provided [RCV000981741]	likely benign	1	37540562	37540562	Human		name
126740928	CV1019372	single nucleotide variant	NM_024700.4(SNIP1):c.1085T>A (p.Phe362Tyr)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV001336126]	uncertain significance	1	37537854	37537854	Human	1	name
150516800	CV1288126	single nucleotide variant	NM_024700.4(SNIP1):c.1054C>G (p.Leu352Val)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV001723522]\|not provided [RCV002538676]\|not specified [RCV005278875]	uncertain significance	1	37537885	37537885	Human	1	name
151848399	CV1353097	single nucleotide variant	NM_024700.4(SNIP1):c.1156G>A (p.Asp386Asn)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV003136274]\|not provided [RCV001922439]	uncertain significance	1	37537783	37537783	Human	1	name
151814635	CV1452877	single nucleotide variant	NM_024700.4(SNIP1):c.1135A>G (p.Ile379Val)	not provided [RCV001900291]\|not specified [RCV004867748]	likely benign\|uncertain significance	1	37537804	37537804	Human		name
151804977	CV1457025	single nucleotide variant	NM_024700.4(SNIP1):c.1145A>G (p.Lys382Arg)	not provided [RCV001877716]	uncertain significance	1	37537794	37537794	Human		name
151848713	CV1510569	single nucleotide variant	NM_024700.4(SNIP1):c.1148A>G (p.Asp383Gly)	not provided [RCV001957686]\|not specified [RCV004671553]	uncertain significance	1	37537791	37537791	Human		name
155749007	CV1779059	single nucleotide variant	NM_024700.4(SNIP1):c.1055T>C (p.Leu352Pro)	not provided [RCV002304157]	uncertain significance	1	37537884	37537884	Human		name
155943986	CV1921057	single nucleotide variant	NM_024700.4(SNIP1):c.1161G>C (p.Glu387Asp)	not provided [RCV002615820]\|not specified [RCV004867851]	likely benign\|uncertain significance	1	37537778	37537778	Human		name
155942281	CV2129948	single nucleotide variant	NM_024700.4(SNIP1):c.1124A>G (p.Asp375Gly)	not provided [RCV002971368]	uncertain significance	1	37537815	37537815	Human		name
156143349	CV2134221	single nucleotide variant	NM_024700.4(SNIP1):c.1118C>T (p.Ser373Leu)	not provided [RCV002963288]\|not specified [RCV004065075]	uncertain significance	1	37537821	37537821	Human		name
11525814	CV246886	single nucleotide variant	NM_024700.4(SNIP1):c.1158T>G (p.Asp386Glu)	not provided [RCV001854926]\|not specified [RCV000238913]	uncertain significance	1	37537781	37537781	Human		name
405239931	CV2882711	single nucleotide variant	NM_024700.4(SNIP1):c.1178T>C (p.Val393Ala)	not provided [RCV003557188]	uncertain significance	1	37537761	37537761	Human		name
405208372	CV2909214	single nucleotide variant	NM_024700.4(SNIP1):c.1108C>T (p.Leu370Phe)	not provided [RCV003566780]	uncertain significance	1	37537831	37537831	Human		name
405237434	CV2969774	single nucleotide variant	NM_024700.4(SNIP1):c.1106T>C (p.Leu369Ser)	not provided [RCV003683266]	uncertain significance	1	37537833	37537833	Human		name
405234357	CV3073839	single nucleotide variant	NM_024700.4(SNIP1):c.1153G>A (p.Glu385Lys)	not provided [RCV003735601]\|not specified [RCV004673968]	uncertain significance	1	37537786	37537786	Human		name
407525285	CV3474635	single nucleotide variant	NM_024700.4(SNIP1):c.1121C>T (p.Ser374Leu)	not specified [RCV004679106]	uncertain significance	1	37537818	37537818	Human		name
597956906	CV3800336	single nucleotide variant	NM_024700.4(SNIP1):c.1094G>A (p.Arg365Lys)	not provided [RCV005137428]	uncertain significance	1	37537845	37537845	Human		name
597871434	CV3835683	single nucleotide variant	NM_024700.4(SNIP1):c.1175A>T (p.Glu392Val)	not provided [RCV005176674]	uncertain significance	1	37537764	37537764	Human		name
151845592	CV1389887	microsatellite	NM_024700.4(SNIP1):c.261AAG[1] (p.Arg88del)	not provided [RCV001881893]	uncertain significance	1	37552706	37552708	Human		name
151766018	CV1359008	microsatellite	NM_024700.4(SNIP1):c.1172AAG[1] (p.Glu392del)	not provided [RCV001970704]	uncertain significance	1	37537762	37537764	Human		name
156381796	CV1889955	deletion	NM_024700.4(SNIP1):c.702_704del (p.Glu234del)	not provided [RCV003093338]	uncertain significance	1	37540379	37540381	Human		name
156114271	CV2104547	microsatellite	NM_024700.4(SNIP1):c.1161GGA[3] (p.Glu392del)	not provided [RCV002927560]	uncertain significance	1	37537767	37537769	Human		name
151851976	CV1448204	deletion	NM_024700.4(SNIP1):c.1139_1142del (p.Asp380fs)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [RCV004577362]\|not provided [RCV001922914]	pathogenic\|uncertain significance	1	37537797	37537800	Human	1	name
151821966	CV1449749	deletion	NM_024700.4(SNIP1):c.1158_1163del (p.384DE[1])	not provided [RCV002013474]	uncertain significance	1	37537776	37537781	Human		name
151734143	CV1494428	deletion	NM_024700.4(SNIP1):c.1060_1063del (p.Glu354fs)	not provided [RCV001946361]	uncertain significance	1	37537876	37537879	Human		name
151749201	CV1511971	deletion	NM_024700.4(SNIP1):c.1158_1160del (p.Asp386del)	not provided [RCV001986101]	uncertain significance	1	37537779	37537781	Human		name
151835993	CV1347168	indel	NM_024700.4(SNIP1):c.197_198delinsTT (p.Arg66Leu)	not provided [RCV002031294]	uncertain significance	1	37554032	37554033	Human		name

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