List of variants in gene DTNA reported as uncertain significance for congenital anomaly of cardiovascular system

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 233

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HGVS	dbSNP	gnomAD frequency
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)	rs139872140	0.00207
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)	rs138143719	0.00034
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)	rs142009291	0.00028
NM_001386795.1(DTNA):c.1270A>G (p.Asn424Asp)	rs150679265	0.00025
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu)	rs140768365	0.00025
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp)	rs199867593	0.00024
NM_001386795.1(DTNA):c.*2600C>T	rs794729006	0.00019
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met)	rs199556035	0.00013
NM_001386795.1(DTNA):c.1936G>T (p.Val646Leu)	rs191002814	0.00013
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His)	rs142108185	0.00011
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)	rs201071018	0.00010
NM_001386795.1(DTNA):c.371A>G (p.His124Arg)	rs150147476	0.00009
NM_001386795.1(DTNA):c.482T>C (p.Val161Ala)	rs199960642	0.00008
NM_001386795.1(DTNA):c.1183C>T (p.Pro395Ser)	rs768198248	0.00006
NM_001386795.1(DTNA):c.1219G>T (p.Ala407Ser)	rs760958673	0.00006
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp)	rs779045040	0.00006
NM_001386795.1(DTNA):c.239G>A (p.Arg80His)	rs774912781	0.00006
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp)	rs749405895	0.00005
NM_001386795.1(DTNA):c.1346+5G>C	rs397517448	0.00004
NM_001386795.1(DTNA):c.1366C>T (p.Arg456Trp)	rs759435722	0.00004
NM_001386795.1(DTNA):c.1367G>A (p.Arg456Gln)	rs777787083	0.00004
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met)	rs757959636	0.00004
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His)	rs111587625	0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)	rs200977103	0.00004
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr)	rs199983981	0.00004
NM_001386795.1(DTNA):c.938G>A (p.Arg313His)	rs780636786	0.00004
NM_001386795.1(DTNA):c.1082G>A (p.Arg361Lys)	rs776353848	0.00003
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln)	rs773504046	0.00003
NM_001386795.1(DTNA):c.1748A>G (p.Gln583Arg)	rs769821768	0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)	rs145425478	0.00003
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile)	rs749109824	0.00003
NM_001386795.1(DTNA):c.2156G>A (p.Gly719Asp)	rs928341511	0.00003
NM_001386795.1(DTNA):c.497G>A (p.Arg166Gln)	rs376007740	0.00003
NM_001386795.1(DTNA):c.515G>A (p.Arg172Gln)	rs774940705	0.00003
NM_001386795.1(DTNA):c.536C>T (p.Thr179Met)	rs752144270	0.00003
NM_001386795.1(DTNA):c.604-13T>G	rs761037945	0.00003
NM_001386795.1(DTNA):c.604-7T>A	rs766599616	0.00003
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys)	rs536920784	0.00003
NM_001386795.1(DTNA):c.1291G>A (p.Asp431Asn)	rs777304620	0.00002
NM_001386795.1(DTNA):c.154C>G (p.Leu52Val)	rs780815924	0.00002
NM_001386795.1(DTNA):c.1603G>T (p.Ala535Ser)	rs746736894	0.00002
NM_001386795.1(DTNA):c.172G>T (p.Val58Phe)	rs769176953	0.00002
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)	rs1057518968	0.00002
NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly)	rs767620520	0.00002
NM_001386795.1(DTNA):c.188G>A (p.Arg63Gln)	rs766420415	0.00002
NM_001386795.1(DTNA):c.2181T>A (p.Asp727Glu)	rs564742185	0.00002
NM_001386795.1(DTNA):c.2227C>T (p.Arg743Trp)	rs774768713	0.00002
NM_001386795.1(DTNA):c.2276T>C (p.Leu759Pro)	rs766539608	0.00002
NM_001386795.1(DTNA):c.298C>T (p.His100Tyr)	rs959010180	0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu)	rs104894654	0.00002
NM_001386795.1(DTNA):c.642G>A (p.Met214Ile)	rs745752400	0.00002
NM_001386795.1(DTNA):c.85C>T (p.Arg29Cys)	rs781374642	0.00002
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met)	rs747834756	0.00002
NM_001386795.1(DTNA):c.*2581G>A	rs1316954336	0.00001
NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn)	rs374347283	0.00001
NM_001386795.1(DTNA):c.1259A>G (p.Gln420Arg)	rs754697522	0.00001
NM_001386795.1(DTNA):c.1309G>A (p.Gly437Arg)	rs373427602	0.00001
NM_001386795.1(DTNA):c.1324A>G (p.Met442Val)	rs763206573	0.00001
NM_001386795.1(DTNA):c.1345T>C (p.Cys449Arg)	rs377526715	0.00001
NM_001386795.1(DTNA):c.1347-1G>A	rs772088612	0.00001
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro)	rs2096416305	0.00001
NM_001386795.1(DTNA):c.1397G>C (p.Arg466Thr)	rs762579551	0.00001
NM_001386795.1(DTNA):c.1444C>G (p.Gln482Glu)	rs775527586	0.00001
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)	rs775975702	0.00001
NM_001386795.1(DTNA):c.1484C>T (p.Ala495Val)	rs760288717	0.00001
NM_001386795.1(DTNA):c.1598A>G (p.Glu533Gly)	rs546897344	0.00001
NM_001386795.1(DTNA):c.1636C>T (p.Arg546Trp)	rs371363393	0.00001
NM_001386795.1(DTNA):c.1696C>T (p.Arg566Trp)	rs1173408567	0.00001
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr)	rs767501382	0.00001
NM_001386795.1(DTNA):c.1820C>T (p.Ala607Val)	rs773170065	0.00001
NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr)	rs772866088	0.00001
NM_001386795.1(DTNA):c.2186A>G (p.Tyr729Cys)	rs756932426	0.00001
NM_001386795.1(DTNA):c.2195C>T (p.Pro732Leu)	rs1456993704	0.00001
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn)	rs769251451	0.00001
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)	rs533568822	0.00001
NM_001386795.1(DTNA):c.2228G>A (p.Arg743Gln)	rs371303988	0.00001
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala)	rs200736432	0.00001
NM_001386795.1(DTNA):c.322A>G (p.Ile108Val)	rs1201061306	0.00001
NM_001386795.1(DTNA):c.481G>A (p.Val161Met)	rs1302999147	0.00001
NM_001386795.1(DTNA):c.506A>G (p.Gln169Arg)	rs201674479	0.00001
NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr)	rs769662524	0.00001
NM_001386795.1(DTNA):c.660G>T (p.Gln220His)	rs1031348434	0.00001
NM_001386795.1(DTNA):c.695C>T (p.Ala232Val)	rs771510372	0.00001
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr)	rs369043538	0.00001
NM_001386795.1(DTNA):c.824A>G (p.His275Arg)	rs373047659	0.00001
NM_001386795.1(DTNA):c.829G>A (p.Gly277Ser)	rs1196384917	0.00001
NM_001386795.1(DTNA):c.86G>A (p.Arg29His)	rs1249921119	0.00001
NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg)	rs138085660	0.00001
NM_001386795.1(DTNA):c.969G>C (p.Gln323His)	rs201472116	0.00001
NC_000018.9:g.(?_32335941)_(32464709_?)dup
NC_000018.9:g.(?_32391903)_(32464709_?)dup
NM_001386795.1(DTNA):c.1002-2312T>C
NM_001386795.1(DTNA):c.1002-2319T>C
NM_001386795.1(DTNA):c.1011A>C (p.Arg337Ser)	rs2095889742
NM_001386795.1(DTNA):c.1028A>G (p.Asn343Ser)	rs774372435
NM_001386795.1(DTNA):c.1028A>T (p.Asn343Ile)	rs774372435
NM_001386795.1(DTNA):c.104A>G (p.Tyr35Cys)
NM_001386795.1(DTNA):c.1051G>A (p.Val351Ile)
NM_001386795.1(DTNA):c.1176-2A>G
NM_001386795.1(DTNA):c.1178C>G (p.Ser393Cys)
NM_001386795.1(DTNA):c.1179T>G (p.Ser393=)
NM_001386795.1(DTNA):c.117C>A (p.Cys39Ter)
NM_001386795.1(DTNA):c.1219G>A (p.Ala407Thr)
NM_001386795.1(DTNA):c.1231C>G (p.Pro411Ala)
NM_001386795.1(DTNA):c.1249A>G (p.Lys417Glu)	rs2149711494
NM_001386795.1(DTNA):c.1253+18_1253+19delinsGT
NM_001386795.1(DTNA):c.1260G>T (p.Gln420His)	rs1603075327
NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val)	rs375890182
NM_001386795.1(DTNA):c.1317T>C (p.Tyr439=)
NM_001386795.1(DTNA):c.1331G>A (p.Arg444Gln)
NM_001386795.1(DTNA):c.1343C>A (p.Ser448Ter)	rs2096209809
NM_001386795.1(DTNA):c.1343C>T (p.Ser448Leu)
NM_001386795.1(DTNA):c.1347-2A>T	rs2149869841
NM_001386795.1(DTNA):c.1347C>T (p.Cys449=)
NM_001386795.1(DTNA):c.1349T>C (p.Met450Thr)	rs956944215
NM_001386795.1(DTNA):c.1355A>G (p.Glu452Gly)
NM_001386795.1(DTNA):c.1414G>A (p.Ala472Thr)	rs2096417016
NM_001386795.1(DTNA):c.1435-3C>T
NM_001386795.1(DTNA):c.1442C>A (p.Pro481His)	rs1354941224
NM_001386795.1(DTNA):c.148+1G>A
NM_001386795.1(DTNA):c.1483G>A (p.Ala495Thr)
NM_001386795.1(DTNA):c.148T>G (p.Leu50Val)	rs1555778803
NM_001386795.1(DTNA):c.1498A>T (p.Arg500Trp)
NM_001386795.1(DTNA):c.1529A>G (p.Asn510Ser)	rs1270254305
NM_001386795.1(DTNA):c.1532+1G>T
NM_001386795.1(DTNA):c.1561C>T (p.Arg521Trp)
NM_001386795.1(DTNA):c.1589C>A (p.Pro530His)
NM_001386795.1(DTNA):c.15T>A (p.Ser5Arg)
NM_001386795.1(DTNA):c.1619C>T (p.Thr540Ile)
NM_001386795.1(DTNA):c.1637G>T (p.Arg546Leu)	rs773504046
NM_001386795.1(DTNA):c.163A>G (p.Ile55Val)	rs1487690122
NM_001386795.1(DTNA):c.1651C>T (p.Arg551Cys)	rs2150150752
NM_001386795.1(DTNA):c.1671G>C (p.Gln557His)
NM_001386795.1(DTNA):c.1676T>C (p.Met559Thr)
NM_001386795.1(DTNA):c.16G>C (p.Gly6Arg)
NM_001386795.1(DTNA):c.1708A>G (p.Met570Val)	rs1250288261
NM_001386795.1(DTNA):c.1729A>G (p.Met577Val)	rs370629863
NM_001386795.1(DTNA):c.1743+2825dup	rs778058745
NM_001386795.1(DTNA):c.1743G>A (p.Lys581=)
NM_001386795.1(DTNA):c.1744-11T>C
NM_001386795.1(DTNA):c.1756G>A (p.Gly586Ser)	rs2150323740
NM_001386795.1(DTNA):c.1760C>G (p.Ser587Cys)	rs766127967
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)	rs200246467
NM_001386795.1(DTNA):c.1784C>T (p.Thr595Ile)
NM_001386795.1(DTNA):c.1786A>G (p.Ile596Val)
NM_001386795.1(DTNA):c.1792A>G (p.Arg598Gly)
NM_001386795.1(DTNA):c.1801C>A (p.Pro601Thr)
NM_001386795.1(DTNA):c.1810A>G (p.Ile604Val)
NM_001386795.1(DTNA):c.1814G>A (p.Arg605Gln)
NM_001386795.1(DTNA):c.1853A>G (p.Gln618Arg)	rs2096804507
NM_001386795.1(DTNA):c.1873G>A (p.Gly625Arg)	rs2150324967
NM_001386795.1(DTNA):c.187C>G (p.Arg63Gly)	rs773407468
NM_001386795.1(DTNA):c.1886A>G (p.Gln629Arg)
NM_001386795.1(DTNA):c.1894T>A (p.Phe632Ile)
NM_001386795.1(DTNA):c.1896T>A (p.Phe632Leu)
NM_001386795.1(DTNA):c.196G>T (p.Ala66Ser)
NM_001386795.1(DTNA):c.1993+5G>A
NM_001386795.1(DTNA):c.1995G>A (p.Glu665=)
NM_001386795.1(DTNA):c.2020G>A (p.Val674Met)
NM_001386795.1(DTNA):c.204del (p.Asn68fs)
NM_001386795.1(DTNA):c.2068C>T (p.Pro690Ser)
NM_001386795.1(DTNA):c.206A>C (p.Asn69Thr)
NM_001386795.1(DTNA):c.2086_2088dup (p.Phe696_Leu697insPhe)
NM_001386795.1(DTNA):c.209T>C (p.Leu70Pro)	rs1060503523
NM_001386795.1(DTNA):c.2114C>G (p.Pro705Arg)
NM_001386795.1(DTNA):c.2115del (p.Tyr707fs)
NM_001386795.1(DTNA):c.2130T>A (p.Ser710Arg)
NM_001386795.1(DTNA):c.2131G>A (p.Gly711Arg)	rs1320504182
NM_001386795.1(DTNA):c.2140A>G (p.Thr714Ala)
NM_001386795.1(DTNA):c.2150T>C (p.Met717Thr)
NM_001386795.1(DTNA):c.2152C>T (p.Arg718Cys)
NM_001386795.1(DTNA):c.2153G>T (p.Arg718Leu)
NM_001386795.1(DTNA):c.2158G>A (p.Asp720Asn)
NM_001386795.1(DTNA):c.2172G>C (p.Glu724Asp)	rs1297383915
NM_001386795.1(DTNA):c.2173G>A (p.Asp725Asn)
NM_001386795.1(DTNA):c.2191C>T (p.Gln731Ter)
NM_001386795.1(DTNA):c.2194C>G (p.Pro732Ala)
NM_001386795.1(DTNA):c.2207A>G (p.Asn736Ser)
NM_001386795.1(DTNA):c.220A>G (p.Thr74Ala)
NM_001386795.1(DTNA):c.2216A>T (p.Asn739Ile)
NM_001386795.1(DTNA):c.2251A>T (p.Met751Leu)
NM_001386795.1(DTNA):c.232G>A (p.Val78Met)	rs1175132407
NM_001386795.1(DTNA):c.236C>T (p.Ser79Phe)	rs779579352
NM_001386795.1(DTNA):c.238C>T (p.Arg80Cys)
NM_001386795.1(DTNA):c.25G>C (p.Gly9Arg)
NM_001386795.1(DTNA):c.262A>G (p.Ile88Val)
NM_001386795.1(DTNA):c.271C>G (p.Gln91Glu)
NM_001386795.1(DTNA):c.284G>A (p.Arg95Gln)	rs2094870463
NM_001386795.1(DTNA):c.293C>T (p.Thr98Ile)
NM_001386795.1(DTNA):c.317A>T (p.Gln106Leu)
NM_001386795.1(DTNA):c.31A>G (p.Thr11Ala)
NM_001386795.1(DTNA):c.320C>A (p.Ser107Tyr)
NM_001386795.1(DTNA):c.353C>T (p.Ala118Val)
NM_001386795.1(DTNA):c.364G>A (p.Glu122Lys)
NM_001386795.1(DTNA):c.368G>A (p.Gly123Asp)	rs1435037181
NM_001386795.1(DTNA):c.381T>G (p.Ile127Met)	rs958850248
NM_001386795.1(DTNA):c.403G>T (p.Ala135Ser)	rs2149253090
NM_001386795.1(DTNA):c.433A>T (p.Met145Leu)	rs982526159
NM_001386795.1(DTNA):c.436G>C (p.Asp146His)
NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile)
NM_001386795.1(DTNA):c.443T>C (p.Leu148Ser)
NM_001386795.1(DTNA):c.472T>G (p.Ser158Ala)	rs2149331739
NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)
NM_001386795.1(DTNA):c.4A>T (p.Ile2Phe)	rs984784834
NM_001386795.1(DTNA):c.514C>T (p.Arg172Trp)
NM_001386795.1(DTNA):c.535A>G (p.Thr179Ala)
NM_001386795.1(DTNA):c.560T>G (p.Phe187Cys)
NM_001386795.1(DTNA):c.590G>C (p.Cys197Ser)
NM_001386795.1(DTNA):c.603+3A>G	rs2095496828
NM_001386795.1(DTNA):c.603+3dup
NM_001386795.1(DTNA):c.604-10T>C	rs2095586366
NM_001386795.1(DTNA):c.605A>G (p.Lys202Arg)
NM_001386795.1(DTNA):c.647A>T (p.Asp216Val)
NM_001386795.1(DTNA):c.667G>T (p.Val223Phe)
NM_001386795.1(DTNA):c.675G>C (p.Leu225Phe)	rs376519672
NM_001386795.1(DTNA):c.754A>G (p.Met252Val)
NM_001386795.1(DTNA):c.754A>T (p.Met252Leu)
NM_001386795.1(DTNA):c.770G>A (p.Arg257Gln)
NM_001386795.1(DTNA):c.821G>A (p.Gly274Glu)
NM_001386795.1(DTNA):c.823C>T (p.His275Tyr)	rs1555826918
NM_001386795.1(DTNA):c.842G>A (p.Ser281Asn)	rs2095638594
NM_001386795.1(DTNA):c.872_875dup (p.Trp292fs)	rs2095638924
NM_001386795.1(DTNA):c.879A>G (p.Lys293=)	rs2095695910
NM_001386795.1(DTNA):c.883C>T (p.Pro295Ser)
NM_001386795.1(DTNA):c.88A>T (p.Ile30Phe)	rs1480526218
NM_001386795.1(DTNA):c.894G>T (p.Lys298Asn)	rs2095696064
NM_001386795.1(DTNA):c.953C>A (p.Pro318His)	rs727505085
NM_001386795.1(DTNA):c.961C>G (p.Pro321Ala)
NM_001386795.1(DTNA):c.977A>G (p.Lys326Arg)
NM_001386795.1(DTNA):c.98C>T (p.Ser33Phe)
NM_001386795.1(DTNA):c.991G>A (p.Ala331Thr)
NM_001386795.1(DTNA):c.998T>G (p.Ile333Ser)
NM_001386795.1(DTNA):c.9A>T (p.Glu3Asp)

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