Polr1b Variant Search Result - Rat Genome Database

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134 records found for search term Polr1b

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150449971	CV1273705	single nucleotide variant	NM_019014.6(POLR1B):c.*104C>T	not provided [RCV001691805]	benign	2	112575833	112575833	Human		name
150483617	CV1222332	single nucleotide variant	NM_019014.6(POLR1B):c.492+6G>C	not provided [RCV001617334]	benign	2	112547573	112547573	Human		name
150473581	CV1252430	single nucleotide variant	NM_019014.6(POLR1B):c.492+8C>T	not provided [RCV001671632]	benign	2	112547575	112547575	Human		name
408381951	CV3526654	single nucleotide variant	NM_019014.6(POLR1B):c.987-3C>G	not provided [RCV004771967]	uncertain significance	2	112552642	112552642	Human		name
150338904	CV1167213	single nucleotide variant	NM_019014.6(POLR1B):c.2526-3T>C	not provided [RCV001533857]	benign	2	112574844	112574844	Human		name
150504097	CV1212614	single nucleotide variant	NM_019014.6(POLR1B):c.493-17A>G	not provided [RCV001595489]	benign	2	112549250	112549250	Human		name
150490988	CV1222683	single nucleotide variant	NM_019014.6(POLR1B):c.986+78C>A	not provided [RCV001618743]	benign	2	112552076	112552076	Human		name
150511014	CV1229326	duplication	NM_019014.6(POLR1B):c.625+60dup	not provided [RCV001637254]	benign	2	112549446	112549447	Human		name
150435655	CV1233920	deletion	NM_019014.6(POLR1B):c.625+60del	not provided [RCV001644047]	benign	2	112549447	112549447	Human		name
150504539	CV1240774	single nucleotide variant	NM_019014.6(POLR1B):c.177+82G>A	not provided [RCV001657617]	benign	2	112542753	112542753	Human		name
150502349	CV1241224	single nucleotide variant	NM_019014.6(POLR1B):c.986+45G>A	not provided [RCV001657120]	benign	2	112552043	112552043	Human		name
150469566	CV1243177	deletion	NM_019014.6(POLR1B):c.987-13del	not provided [RCV001650697]	benign	2	112552621	112552621	Human		name
150458912	CV1248369	single nucleotide variant	NM_019014.6(POLR1B):c.626-25A>T	not provided [RCV001669190]	benign	2	112550841	112550841	Human		name
150488761	CV1250432	single nucleotide variant	NM_019014.6(POLR1B):c.177+35C>G	not provided [RCV001674392]	benign	2	112542706	112542706	Human		name
150448060	CV1261913	single nucleotide variant	NM_019014.6(POLR1B):c.762+43C>T	not provided [RCV001680298]	benign	2	112551045	112551045	Human		name
150503601	CV1212515	single nucleotide variant	NM_019014.6(POLR1B):c.1613-43T>C	not provided [RCV001595390]	benign	2	112564323	112564323	Human		name
150438799	CV1221215	single nucleotide variant	NM_019014.6(POLR1B):c.625+105T>C	not provided [RCV001609909]	benign	2	112549504	112549504	Human		name
150440437	CV1246573	single nucleotide variant	NM_019014.6(POLR1B):c.492+214G>A	not provided [RCV001666226]	benign	2	112547781	112547781	Human		name
150470831	CV1248084	single nucleotide variant	NM_019014.6(POLR1B):c.625+139C>T	not provided [RCV001671120]	benign	2	112549538	112549538	Human		name
150488723	CV1250426	single nucleotide variant	NM_019014.6(POLR1B):c.762+216C>G	not provided [RCV001674386]	benign	2	112551218	112551218	Human		name
150478497	CV1257157	single nucleotide variant	NM_019014.6(POLR1B):c.2074+23C>T	not provided [RCV001672387]	benign	2	112568925	112568925	Human		name
150503299	CV1257764	single nucleotide variant	NM_019014.6(POLR1B):c.177+146A>C	not provided [RCV001677452]	benign	2	112542817	112542817	Human		name
150485238	CV1262053	single nucleotide variant	NM_019014.6(POLR1B):c.1918-42C>G	not provided [RCV001686744]	benign	2	112568704	112568704	Human		name
150437996	CV1262398	deletion	NM_019014.6(POLR1B):c.625+117del	not provided [RCV001678757]	benign	2	112549500	112549500	Human		name
150448160	CV1275500	single nucleotide variant	NM_019014.6(POLR1B):c.1613-32G>A	not provided [RCV001707955]	benign	2	112564334	112564334	Human		name
150335734	CV1164872	single nucleotide variant	NM_019014.6(POLR1B):c.1159-187C>T	not provided [RCV001530533]	benign	2	112557723	112557723	Human		name
150468672	CV1218947	single nucleotide variant	NM_019014.6(POLR1B):c.1330+145A>C	not provided [RCV001614699]	benign	2	112558226	112558226	Human		name
150440444	CV1246574	single nucleotide variant	NM_019014.6(POLR1B):c.1158+150G>A	not provided [RCV001666227]	benign	2	112552966	112552966	Human		name
150482779	CV1261675	single nucleotide variant	NM_019014.6(POLR1B):c.1746+204A>G	not provided [RCV001686278]	benign	2	112564703	112564703	Human		name
150443526	CV1266408	single nucleotide variant	NM_019014.6(POLR1B):c.1612+202G>A	not provided [RCV001690844]	benign	2	112559776	112559776	Human		name
150443793	CV1266442	deletion	NM_019014.6(POLR1B):c.2526-102del	not provided [RCV001690878]	benign	2	112574724	112574724	Human		name
150451988	CV1276667	single nucleotide variant	NM_019014.6(POLR1B):c.2526-183G>C	not provided [RCV001708456]	benign	2	112574664	112574664	Human		name
150481221	CV1279694	single nucleotide variant	NM_019014.6(POLR1B):c.2526-153C>G	not provided [RCV001714803]	benign	2	112574694	112574694	Human		name
8648973	CV110623	single nucleotide variant	NM_001137604.2(POLR1B):c.991-2318C>A	Lung cancer [RCV000091146]	uncertain significance	2	112555592	112555592	Human		name
150340212	CV1167917	single nucleotide variant	NM_019014.6(POLR1B):c.699T>A (p.Thr233=)	not provided [RCV001535115]	benign	2	112550939	112550939	Human		name
243062582	CV2404992	single nucleotide variant	NM_019014.6(POLR1B):c.56T>C (p.Leu19Ser)	Treacher Collins syndrome 4 [RCV003140542]	uncertain significance	2	112542550	112542550	Human	1	name
150504921	CV1222764	single nucleotide variant	NM_019014.6(POLR1B):c.1614G>C (p.Gly538=)	not provided [RCV001621698]	benign	2	112564367	112564367	Human		name
150510809	CV1242510	single nucleotide variant	NM_019014.6(POLR1B):c.1882T>C (p.Leu628=)	not provided [RCV001660862]	benign	2	112568102	112568102	Human		name
155950077	CV2158903	deletion	NM_019014.6(POLR1B):c.843del (p.Val282fs)	not provided [RCV003014802]	uncertain significance	2	112551855	112551855	Human		name
155923420	CV2217634	single nucleotide variant	NM_019014.6(POLR1B):c.215G>T (p.Arg72Leu)	not specified [RCV004090154]	uncertain significance	2	112547049	112547049	Human		name
401924837	CV2812245	single nucleotide variant	NM_019014.6(POLR1B):c.148G>A (p.Val50Met)	not provided [RCV003436114]	uncertain significance	2	112542642	112542642	Human		name
401924835	CV2812247	single nucleotide variant	NM_019014.6(POLR1B):c.2688G>A (p.Leu896=)	not provided [RCV003436116]	benign	2	112575009	112575009	Human		name
405271329	CV3190002	single nucleotide variant	NM_001282772.2(POLR1B):c.36G>A (p.Arg12=)	POLR1B-related disorder [RCV003897043]	likely benign	2	112542416	112542416	Human		name , trait , alternate_id
405659153	CV3373472	single nucleotide variant	NM_019014.6(POLR1B):c.280A>C (p.Lys94Gln)	not specified [RCV004512333]	uncertain significance	2	112547114	112547114	Human		name
150511141	CV1213807	deletion	NM_019014.6(POLR1B):c.2526-104_2526-102del	not provided [RCV001597876]	benign	2	112574724	112574726	Human		name
150445703	CV1248348	single nucleotide variant	NM_019014.6(POLR1B):c.884C>T (p.Ser295Leu)	not provided [RCV001667055]	benign	2	112551896	112551896	Human		name
150474054	CV1272272	deletion	NM_019014.6(POLR1B):c.2526-105_2526-102del	not provided [RCV001695810]	benign	2	112574724	112574727	Human		name
156256334	CV2056834	single nucleotide variant	NM_019014.6(POLR1B):c.704T>C (p.Met235Thr)	not provided [RCV002791864]\|not specified [RCV004064886]	uncertain significance	2	112550944	112550944	Human		name
156312845	CV2196425	single nucleotide variant	NM_019014.6(POLR1B):c.789G>C (p.Gln263His)	not specified [RCV004073728]	uncertain significance	2	112551801	112551801	Human		name
155949882	CV2242792	single nucleotide variant	NM_019014.6(POLR1B):c.861G>T (p.Arg287Ser)	not specified [RCV004107390]	uncertain significance	2	112551873	112551873	Human		name
156089410	CV2259122	single nucleotide variant	NM_019014.6(POLR1B):c.772A>G (p.Ser258Gly)	not specified [RCV004120373]	uncertain significance	2	112551784	112551784	Human		name
156005173	CV2290296	single nucleotide variant	NM_019014.6(POLR1B):c.301G>A (p.Ala101Thr)	not specified [RCV004154731]	uncertain significance	2	112547135	112547135	Human		name
156019633	CV2366986	single nucleotide variant	NM_019014.6(POLR1B):c.770T>C (p.Val257Ala)	not specified [RCV004213391]	uncertain significance	2	112551782	112551782	Human		name
156402211	CV2368180	single nucleotide variant	NM_019014.6(POLR1B):c.869T>C (p.Met290Thr)	not specified [RCV004216522]	uncertain significance	2	112551881	112551881	Human		name
329396108	CV2451888	single nucleotide variant	NM_019014.6(POLR1B):c.458C>A (p.Pro153Gln)	not specified [RCV004276562]	uncertain significance	2	112547533	112547533	Human		name
401726325	CV2672438	single nucleotide variant	NM_019014.6(POLR1B):c.634A>G (p.Met212Val)	not specified [RCV004285692]	uncertain significance	2	112550874	112550874	Human		name
401860053	CV2765451	single nucleotide variant	NM_019014.6(POLR1B):c.578T>C (p.Met193Thr)	not specified [RCV004341767]	uncertain significance	2	112549352	112549352	Human		name
405659159	CV3373474	single nucleotide variant	NM_019014.6(POLR1B):c.431A>C (p.Lys144Thr)	not specified [RCV004512335]	uncertain significance	2	112547506	112547506	Human		name
405659163	CV3373475	single nucleotide variant	NM_019014.6(POLR1B):c.878G>T (p.Gly293Val)	not specified [RCV004512336]	uncertain significance	2	112551890	112551890	Human		name
407424970	CV3409197	single nucleotide variant	NM_019014.6(POLR1B):c.490G>T (p.Glu164Ter)	Treacher Collins syndrome 4 [RCV004585128]	likely pathogenic	2	112547565	112547565	Human	1	name
407525060	CV3460945	single nucleotide variant	NM_019014.6(POLR1B):c.487G>A (p.Ala163Thr)	not specified [RCV004653905]	uncertain significance	2	112547562	112547562	Human		name
407481638	CV3460946	single nucleotide variant	NM_019014.6(POLR1B):c.664G>A (p.Val222Ile)	not specified [RCV004664648]	uncertain significance	2	112550904	112550904	Human		name
407525062	CV3460948	single nucleotide variant	NM_019014.6(POLR1B):c.938A>G (p.Asn313Ser)	not specified [RCV004653906]	likely benign	2	112551950	112551950	Human		name
408382959	CV3526777	single nucleotide variant	NM_019014.6(POLR1B):c.404G>C (p.Gly135Ala)	not provided [RCV004772090]	uncertain significance	2	112547479	112547479	Human		name
596928343	CV3541465	single nucleotide variant	NM_019014.6(POLR1B):c.921C>G (p.Cys307Trp)	Treacher Collins syndrome 4 [RCV004797337]	uncertain significance	2	112551933	112551933	Human	1	name
596947062	CV3547126	single nucleotide variant	NM_019014.6(POLR1B):c.971C>T (p.Ala324Val)	not provided [RCV004810934]	likely benign	2	112551983	112551983	Human		name
596945914	CV3548101	single nucleotide variant	NM_019014.6(POLR1B):c.449A>G (p.Asn150Ser)	not provided [RCV004809432]	likely benign	2	112547524	112547524	Human		name
597777597	CV3583920	single nucleotide variant	NM_019014.6(POLR1B):c.407A>G (p.Tyr136Cys)	not specified [RCV004852784]	uncertain significance	2	112547482	112547482	Human		name
597777611	CV3583925	single nucleotide variant	NM_019014.6(POLR1B):c.637C>T (p.His213Tyr)	not specified [RCV004852788]	uncertain significance	2	112550877	112550877	Human		name
598245830	CV3907608	single nucleotide variant	NM_019014.6(POLR1B):c.518A>G (p.Asn173Ser)	not specified [RCV005258402]	uncertain significance	2	112549292	112549292	Human		name
152984297	CV1675263	single nucleotide variant	NM_019014.6(POLR1B):c.1976A>G (p.Gln659Arg)	not specified [RCV002238654]	uncertain significance	2	112568804	112568804	Human		name
155268348	CV1701757	single nucleotide variant	NM_019014.6(POLR1B):c.2055C>A (p.Asn685Lys)	Treacher Collins syndrome 4 [RCV002283988]	uncertain significance	2	112568883	112568883	Human	1	name
155796816	CV1863015	single nucleotide variant	NM_019014.6(POLR1B):c.1231A>G (p.Met411Val)	Treacher Collins syndrome 4 [RCV002470289]	uncertain significance	2	112557982	112557982	Human	1	name
156239600	CV2221269	single nucleotide variant	NM_019014.6(POLR1B):c.2880A>T (p.Glu960Asp)	not specified [RCV004094702]	uncertain significance	2	112575201	112575201	Human		name
156231559	CV2235160	single nucleotide variant	NM_019014.6(POLR1B):c.1701T>A (p.Asp567Glu)	not specified [RCV004106896]	uncertain significance	2	112564454	112564454	Human		name
156032230	CV2259551	single nucleotide variant	NM_019014.6(POLR1B):c.2164G>C (p.Val722Leu)	not specified [RCV004122737]	uncertain significance	2	112572651	112572651	Human		name
156229155	CV2267583	single nucleotide variant	NM_019014.6(POLR1B):c.2540G>A (p.Cys847Tyr)	not specified [RCV004134146]	uncertain significance	2	112574861	112574861	Human		name
155963738	CV2282770	single nucleotide variant	NM_019014.6(POLR1B):c.1010A>T (p.Lys337Ile)	not specified [RCV004141625]	uncertain significance	2	112552668	112552668	Human		name
156181688	CV2298553	single nucleotide variant	NM_019014.6(POLR1B):c.1706A>C (p.Asp569Ala)	not specified [RCV004162207]	uncertain significance	2	112564459	112564459	Human		name
156037080	CV2332505	single nucleotide variant	NM_019014.6(POLR1B):c.2548G>T (p.Asp850Tyr)	not specified [RCV004196227]	uncertain significance	2	112574869	112574869	Human		name
156046450	CV2340251	single nucleotide variant	NM_019014.6(POLR1B):c.1603T>G (p.Cys535Gly)	not specified [RCV004194524]	uncertain significance	2	112559565	112559565	Human		name
156105624	CV2352549	single nucleotide variant	NM_019014.6(POLR1B):c.2893A>G (p.Met965Val)	not specified [RCV004203048]	uncertain significance	2	112575214	112575214	Human		name
156105996	CV2387051	single nucleotide variant	NM_019014.6(POLR1B):c.2017T>A (p.Phe673Ile)	not specified [RCV004226796]	uncertain significance	2	112568845	112568845	Human		name
156114386	CV2397167	single nucleotide variant	NM_019014.6(POLR1B):c.1478C>T (p.Ser493Phe)	not provided [RCV003435970]\|not specified [RCV004236661]	uncertain significance	2	112559440	112559440	Human		name
243052431	CV2417896	single nucleotide variant	NM_019014.6(POLR1B):c.1496C>T (p.Pro499Leu)	Treacher Collins syndrome 4 [RCV003152961]	uncertain significance	2	112559458	112559458	Human	1	name
329375882	CV2431654	single nucleotide variant	NM_019014.6(POLR1B):c.1891G>A (p.Glu631Lys)	not specified [RCV004254799]	uncertain significance	2	112568111	112568111	Human		name
329356786	CV2460547	single nucleotide variant	NM_019014.6(POLR1B):c.1981C>T (p.Leu661Phe)	not specified [RCV004268828]	uncertain significance	2	112568809	112568809	Human		name
329385631	CV2462122	single nucleotide variant	NM_019014.6(POLR1B):c.2524A>G (p.Lys842Glu)	not specified [RCV004266147]	uncertain significance	2	112573814	112573814	Human		name
329397904	CV2466426	single nucleotide variant	NM_019014.6(POLR1B):c.1253G>A (p.Arg418Lys)	not specified [RCV004273983]	likely benign	2	112558004	112558004	Human		name
329953913	CV2669255	single nucleotide variant	NM_019014.6(POLR1B):c.2903C>G (p.Ala968Gly)	not provided [RCV003231761]\|not specified [RCV004654193]	uncertain significance	2	112575224	112575224	Human		name
401758563	CV2700592	single nucleotide variant	NM_019014.6(POLR1B):c.2365G>T (p.Asp789Tyr)	not specified [RCV004313326]	uncertain significance	2	112573655	112573655	Human		name
401758507	CV2704568	single nucleotide variant	NM_019014.6(POLR1B):c.2550T>A (p.Asp850Glu)	not specified [RCV004313297]	uncertain significance	2	112574871	112574871	Human		name
401763408	CV2714543	single nucleotide variant	NM_019014.6(POLR1B):c.2609C>T (p.Thr870Ile)	not specified [RCV004318058]	uncertain significance	2	112574930	112574930	Human		name
401771551	CV2722867	single nucleotide variant	NM_019014.6(POLR1B):c.1549G>A (p.Val517Ile)	not specified [RCV004325276]	likely benign	2	112559511	112559511	Human		name
401781197	CV2732322	single nucleotide variant	NM_019014.6(POLR1B):c.1414G>C (p.Val472Leu)	not specified [RCV004331491]	uncertain significance	2	112559376	112559376	Human		name
401873550	CV2761501	single nucleotide variant	NM_019014.6(POLR1B):c.2407G>A (p.Val803Ile)	not specified [RCV004334672]	likely benign	2	112573697	112573697	Human		name
401892646	CV2782303	single nucleotide variant	NM_019014.6(POLR1B):c.1883T>C (p.Leu628Ser)	not specified [RCV004352951]	uncertain significance	2	112568103	112568103	Human		name
401924836	CV2812246	single nucleotide variant	NM_019014.6(POLR1B):c.2600T>C (p.Val867Ala)	POLR1B-related disorder [RCV003908920]\|not provided [RCV003436115]	benign\|likely benign	2	112574921	112574921	Human	1	name , trait , alternate_id
405289694	CV3220983	single nucleotide variant	NM_019014.6(POLR1B):c.1636C>T (p.Pro546Ser)	POLR1B-related disorder [RCV003961876]	likely benign	2	112564389	112564389	Human		name , trait , alternate_id
405659129	CV3373465	single nucleotide variant	NM_019014.6(POLR1B):c.1049C>T (p.Thr350Met)	not specified [RCV004512326]	uncertain significance	2	112552707	112552707	Human		name
405659131	CV3373466	single nucleotide variant	NM_019014.6(POLR1B):c.1429G>A (p.Asp477Asn)	not specified [RCV004512327]	uncertain significance	2	112559391	112559391	Human		name
405659134	CV3373467	single nucleotide variant	NM_019014.6(POLR1B):c.1443G>A (p.Met481Ile)	not specified [RCV004512328]	uncertain significance	2	112559405	112559405	Human		name
405659137	CV3373468	single nucleotide variant	NM_019014.6(POLR1B):c.1571T>G (p.Phe524Cys)	not specified [RCV004512329]	uncertain significance	2	112559533	112559533	Human		name
405659141	CV3373469	single nucleotide variant	NM_019014.6(POLR1B):c.1583C>T (p.Ala528Val)	not specified [RCV004512330]	uncertain significance	2	112559545	112559545	Human		name
405659329	CV3373470	single nucleotide variant	NM_019014.6(POLR1B):c.2404C>T (p.Arg802Cys)	not specified [RCV004512331]	uncertain significance	2	112573694	112573694	Human		name
405659150	CV3373471	single nucleotide variant	NM_019014.6(POLR1B):c.2611A>G (p.Met871Val)	not specified [RCV004512332]	uncertain significance	2	112574932	112574932	Human		name
407481651	CV3460949	single nucleotide variant	NM_019014.6(POLR1B):c.1933G>A (p.Ala645Thr)	not specified [RCV004664650]	uncertain significance	2	112568761	112568761	Human		name
408384492	CV3504149	single nucleotide variant	NM_019014.6(POLR1B):c.2063A>G (p.Gln688Arg)	POLR1B-related disorder [RCV004731856]	likely pathogenic	2	112568891	112568891	Human		name , trait , alternate_id
408383938	CV3506141	single nucleotide variant	NM_019014.6(POLR1B):c.1360T>A (p.Cys454Ser)	POLR1B-related disorder [RCV004731418]	uncertain significance	2	112559322	112559322	Human		name , trait , alternate_id
408392476	CV3525251	single nucleotide variant	NM_019014.6(POLR1B):c.2039A>G (p.Asn680Ser)	not provided [RCV004771137]	uncertain significance	2	112568867	112568867	Human		name
597777593	CV3583919	single nucleotide variant	NM_019014.6(POLR1B):c.1594G>A (p.Ala532Thr)	not specified [RCV004852783]	uncertain significance	2	112559556	112559556	Human		name
597777601	CV3583922	single nucleotide variant	NM_019014.6(POLR1B):c.1084A>G (p.Met362Val)	not specified [RCV004852785]	uncertain significance	2	112552742	112552742	Human		name
597777604	CV3583923	single nucleotide variant	NM_019014.6(POLR1B):c.2921A>G (p.Tyr974Cys)	not specified [RCV004852786]	uncertain significance	2	112575242	112575242	Human		name
597777615	CV3583926	single nucleotide variant	NM_019014.6(POLR1B):c.2617G>A (p.Val873Met)	not specified [RCV004852789]	uncertain significance	2	112574938	112574938	Human		name
597777620	CV3583927	single nucleotide variant	NM_019014.6(POLR1B):c.1408C>T (p.Arg470Cys)	not specified [RCV004852790]	uncertain significance	2	112559370	112559370	Human		name
597777624	CV3583928	single nucleotide variant	NM_019014.6(POLR1B):c.2680A>T (p.Ser894Cys)	not specified [RCV004852791]	uncertain significance	2	112575001	112575001	Human		name
597777627	CV3583929	single nucleotide variant	NM_019014.6(POLR1B):c.2209A>G (p.Ile737Val)	not specified [RCV004852792]	uncertain significance	2	112572696	112572696	Human		name
598245816	CV3907606	single nucleotide variant	NM_019014.6(POLR1B):c.1016A>G (p.Asn339Ser)	not specified [RCV005258400]	uncertain significance	2	112552674	112552674	Human		name
598245824	CV3907607	single nucleotide variant	NM_019014.6(POLR1B):c.1877T>C (p.Leu626Ser)	not specified [RCV005258401]	uncertain significance	2	112568097	112568097	Human		name
598245836	CV3907609	single nucleotide variant	NM_019014.6(POLR1B):c.2613G>C (p.Met871Ile)	not specified [RCV005258403]	uncertain significance	2	112574934	112574934	Human		name
598245851	CV3907611	single nucleotide variant	NM_019014.6(POLR1B):c.2262A>C (p.Glu754Asp)	not specified [RCV005258405]	uncertain significance	2	112572749	112572749	Human		name
598245858	CV3907612	single nucleotide variant	NM_019014.6(POLR1B):c.1318C>T (p.Arg440Cys)	not specified [RCV005258406]	uncertain significance	2	112558069	112558069	Human		name
38465957	CV920612	single nucleotide variant	NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)	Treacher Collins syndrome 4 [RCV001200056]\|Treacher Collins syndrome [RCV003319220]	pathogenic\|not provided	2	112568874	112568874	Human	3	name
156271957	CV2333884	single nucleotide variant	NM_019014.6(POLR1B):c.3398A>G (p.Asp1133Gly)	POLR1B-related disorder [RCV003954007]\|not specified [RCV004181379]	likely benign\|uncertain significance	2	112575719	112575719	Human	1	name , trait , alternate_id
155923613	CV2347536	single nucleotide variant	NM_019014.6(POLR1B):c.3274C>T (p.Arg1092Cys)	not specified [RCV004200479]	uncertain significance	2	112575595	112575595	Human		name
401918816	CV2800958	single nucleotide variant	NM_019014.6(POLR1B):c.3052C>T (p.Arg1018Ter)	POLR1B-related disorder [RCV003402146]\|not provided [RCV004780546]	uncertain significance	2	112575373	112575373	Human	1	name , trait , alternate_id
405282301	CV3212261	single nucleotide variant	NM_019014.6(POLR1B):c.3191G>A (p.Arg1064Gln)	POLR1B-related disorder [RCV003956919]	likely benign	2	112575512	112575512	Human		name , trait , alternate_id
405659156	CV3373473	single nucleotide variant	NM_019014.6(POLR1B):c.3059G>C (p.Arg1020Thr)	not specified [RCV004512334]	uncertain significance	2	112575380	112575380	Human		name
597777608	CV3583924	single nucleotide variant	NM_019014.6(POLR1B):c.3296C>T (p.Thr1099Ile)	not specified [RCV004852787]	uncertain significance	2	112575617	112575617	Human		name
597665345	CV3732612	single nucleotide variant	NM_019014.6(POLR1B):c.3077T>C (p.Ile1026Thr)	not provided [RCV005004081]	uncertain significance	2	112575398	112575398	Human		name
598245844	CV3907610	single nucleotide variant	NM_019014.6(POLR1B):c.3308G>A (p.Arg1103His)	not specified [RCV005258404]	uncertain significance	2	112575629	112575629	Human		name
38465960	CV920613	single nucleotide variant	NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)	POLR1B-related disorder [RCV003945916]\|Treacher Collins syndrome 4 [RCV001200057]\|Treacher Collins syndrome [RCV003319221]	pathogenic\|not provided	2	112575328	112575328	Human	4	name , trait , alternate_id
38465964	CV920614	single nucleotide variant	NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)	Treacher Collins syndrome 4 [RCV001200058]\|Treacher Collins syndrome [RCV003319222]	pathogenic\|not provided	2	112575328	112575328	Human	3	name
329350482	CV2472984	microsatellite	NM_001282772.2(POLR1B):c.75_99del (p.Tyr27fs)	not provided [RCV003218967]	benign	2	112542425	112542449	Human		name

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