ClinVar Miner

List of variants studied for congenital heart disease by Mendelics

Included ClinVar conditions (290):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro) rs870124 0.89071
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile) rs142153692 0.00053
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_001077653.2(TBX20):c.546-8T>A rs191362319 0.00018
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met) rs72556370 0.00007
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) rs563611707 0.00005
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu) rs199473028 0.00003
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) rs759934820 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977 0.00002
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln) rs199473020 0.00001
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg) rs199473498
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) rs2154593437
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) rs2154562881
NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter) rs1562443558
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) rs863225303
NM_015151.4(DIP2A):c.1431T>G (p.Gly477=) rs1601714473

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