ClinVar Miner

List of variants reported as uncertain significance for congenital anomaly of cardiovascular system by New York Genome Center

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00029
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_005184.4(CALM3):c.421+4A>G rs373529765 0.00018
NM_004793.4(LONP1):c.296G>A (p.Gly99Asp) rs747867148 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) rs369483452 0.00005
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_022114.4(PRDM16):c.3097G>A (p.Glu1033Lys) rs554867627 0.00004
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) rs773015884 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) rs749946056 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000238.4(KCNH2):c.306T>C (p.Asp102=) rs1005025657 0.00002
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys) rs730880764 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000719.7(CACNA1C):c.4141-605G>A rs1054703481 0.00002
NM_001136239.4(PRDM6):c.1031C>T (p.Ser344Leu) rs1333586171 0.00002
NM_001743.6(CALM2):c.420A>G (p.Glu140=) rs201444040 0.00002
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312 0.00001
NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala) rs1159352279 0.00001
NM_000257.4(MYH7):c.221A>G (p.Asp74Gly) rs730880831 0.00001
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu) rs770830796 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001302461.2(KLF13):c.728C>T (p.Ala243Val) rs969811939 0.00001
NM_006506.5(RASA2):c.345T>A (p.Asp115Glu) rs956728389 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg)
NM_000219.6(KCNE1):c.-376-8A>T
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys) rs199473434
NM_000257.4(MYH7):c.1792A>G (p.Lys598Glu) rs1057518305
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.4558C>A (p.Leu1520Ile) rs1032623545
NM_000719.7(CACNA1C):c.477+100598G>A
NM_000719.7(CACNA1C):c.5444+584T>G rs2153807364
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp)
NM_001018005.2(TPM1):c.563+53C>G
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) rs1192078635
NM_001386795.1(DTNA):c.953C>A (p.Pro318His) rs727505085
NM_003221.4(TFAP2B):c.1302C>G (p.Asn434Lys)
NM_003221.4(TFAP2B):c.811G>C (p.Val271Leu)
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup) rs2080258350
NM_007078.3(LDB3):c.1231+949C>T
NM_007078.3(LDB3):c.1978+1184G>A rs2132490081
NM_012464.5(TLL1):c.2993T>A (p.Ile998Lys) rs1408093373
NM_017588.3(WDR5):c.*1943_*1944del rs1485562050
NM_022114.4(PRDM16):c.2940-845G>A
NM_174934.4(SCN4B):c.61+1144T>A rs2135509745
NM_206943.4(LTBP1):c.340C>T (p.Pro114Ser) rs2148156761
Single allele

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