ClinVar Miner

List of variants reported as likely benign for congenital heart disease by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_001148.6(ANK2):c.2277+9C>T rs141965666 0.00205
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600 0.00065
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866 0.00058
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_020774.4(MIB1):c.1470C>T (p.Val490=) rs141701856 0.00023
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_020774.4(MIB1):c.1092+3A>G rs372212766 0.00016
NM_020774.4(MIB1):c.636+7A>C rs765948951 0.00010
NM_001386795.1(DTNA):c.978G>A (p.Lys326=) rs200830541 0.00004
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=) rs141094356 0.00003
NM_014391.3(ANKRD1):c.346-16_346-15insATA rs60923931
NM_014391.3(ANKRD1):c.346-35_346-12del rs751458325

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