ClinVar Miner

List of variants reported as uncertain significance for congenital anomaly of cardiovascular system by Baylor Genetics

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) rs112433432 0.00088
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_147191.1(MMP21):c.890C>T (p.Thr297Met) rs150851206 0.00037
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00032
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911 0.00019
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) rs146022334 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693 0.00018
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_138295.5(PKD1L1):c.5158C>T (p.His1720Tyr) rs145499325 0.00009
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp) rs145429962 0.00006
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) rs767728528 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_138295.5(PKD1L1):c.5557C>T (p.Pro1853Ser) rs1002732318 0.00004
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
NM_001148.6(ANK2):c.7729G>A (p.Gly2577Arg) rs768485016 0.00003
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln) rs773504046 0.00003
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) rs150272218 0.00003
NM_002471.4(MYH6):c.2615G>A (p.Arg872His) rs773162706 0.00003
NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys) rs1280321639 0.00003
NM_138295.5(PKD1L1):c.8438C>T (p.Pro2813Leu) rs748675283 0.00003
NM_145020.5(CFAP53):c.1411C>T (p.Arg471Ter) rs202140882 0.00003
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_005751.5(AKAP9):c.48+5G>A rs377559019 0.00002
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_138295.5(PKD1L1):c.6357G>A (p.Glu2119=) rs140064044 0.00002
NM_138295.5(PKD1L1):c.7294C>T (p.Pro2432Ser) rs137918330 0.00002
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met) rs370223247 0.00001
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp) rs368973872 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile) rs201195256 0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_001077653.2(TBX20):c.493C>T (p.His165Tyr) rs370219446 0.00001
NM_001136239.4(PRDM6):c.1781T>G (p.Val594Gly) rs1470510188 0.00001
NM_001148.6(ANK2):c.1459G>T (p.Gly487Cys) rs1470709043 0.00001
NM_001267550.2(TTN):c.42872C>T (p.Ala14291Val) rs746486506 0.00001
NM_001308093.3(GATA4):c.931A>T (p.Met311Leu) rs387906772 0.00001
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro) rs2096416305 0.00001
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn) rs1429110767 0.00001
NM_002471.4(MYH6):c.1411-12T>C rs749244720 0.00001
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp) rs753062079 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_003413.4(ZIC3):c.105G>A (p.Met35Ile) rs1931349869 0.00001
NM_003737.4(DCHS1):c.1442C>A (p.Pro481His) rs1209666427 0.00001
NM_003737.4(DCHS1):c.3785A>T (p.Glu1262Val) rs371379877 0.00001
NM_003737.4(DCHS1):c.4798G>T (p.Ala1600Ser) rs1019051197 0.00001
NM_003737.4(DCHS1):c.6209G>T (p.Arg2070Leu) rs773052564 0.00001
NM_003737.4(DCHS1):c.994G>A (p.Val332Met) rs1413559157 0.00001
NM_007078.3(LDB3):c.1851T>C (p.Ile617=) rs145402041 0.00001
NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His) rs750762877 0.00001
NM_020774.4(MIB1):c.2779+1G>C rs570099048 0.00001
NM_138295.5(PKD1L1):c.578G>A (p.Cys193Tyr) rs199720987 0.00001
NM_147191.1(MMP21):c.1123C>T (p.Arg375Cys) rs138944733 0.00001
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr) rs2067347304
NM_000238.4(KCNH2):c.2966-12C>G rs1800949572
NM_000256.3(MYBPC3):c.1234T>C (p.Phe412Leu) rs2095890795
NM_000256.3(MYBPC3):c.1930C>T (p.Pro644Ser) rs2095886536
NM_000257.4(MYH7):c.2951G>T (p.Gly984Val) rs1892575677
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.4361C>A (p.Ala1454Asp) rs1892259980
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) rs765581751
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=) rs1057524804
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.550G>A (p.Glu184Lys) rs2035529273
NM_001106.4(ACVR2B):c.1156A>C (p.Met386Leu) rs1346683151
NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala) rs761631834
NM_001148.6(ANK2):c.4341del (p.Asn1447_Leu1448insTer) rs2094804945
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe) rs1564029811
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter) rs1558225837
NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu) rs71568273
NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr) rs1562459581
NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys) rs1781470267
NM_001354640.2(CIROP):c.203A>G (p.Tyr68Cys)
NM_001354640.2(CIROP):c.64C>T (p.Arg22Ter)
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
NM_001379200.1(TBX1):c.902C>G (p.Ala301Gly) rs1936812731
NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile)
NM_001386795.1(DTNA):c.604-10T>C rs2095586366
NM_001451.3(FOXF1):c.-2C>T rs1969543882
NM_001492.6(GDF1):c.649C>G (p.Leu217Val) rs2055909840
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)
NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)
NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln) rs201494081
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter) rs186265521
NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu) rs1990630503
NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His) rs1762765738
NM_003737.4(DCHS1):c.1330G>T (p.Ala444Ser)
NM_003737.4(DCHS1):c.3416G>C (p.Arg1139Pro) rs777617608
NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser) rs766811278
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005751.5(AKAP9):c.1243G>A (p.Glu415Lys)
NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu) rs1816657238
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005992.1(TBX1):c.1111G>A (p.Asp371Asn) rs1937156881
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006079.5(CITED2):c.388C>T (p.Pro130Ser)
NM_007078.3(LDB3):c.608C>G (p.Ser203Trp)
NM_007078.3(LDB3):c.805A>C (p.Asn269His) rs1367297073
NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr) rs1290587796
NM_018055.5(NODAL):c.926C>T (p.Pro309Leu) rs1845289922
NM_018365.4(MNS1):c.1163G>A (p.Arg388Gln)
NM_020774.4(MIB1):c.2810A>G (p.Asp937Gly)
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)
NM_138295.5(PKD1L1):c.3818G>T (p.Gly1273Val)
NM_138295.5(PKD1L1):c.3994C>T (p.Arg1332Cys)
NM_145020.5(CFAP53):c.553G>A (p.Ala185Thr)

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