ClinVar Miner

List of variants studied for congenital heart defects, multiple types

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_080473.5(GATA5):c.1128A>G (p.Pro376=) rs6061550 0.53748
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_080473.5(GATA5):c.232G>A (p.Gly78Ser) rs572247741 0.00227
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) rs112433432 0.00088
NM_080473.5(GATA5):c.424T>C (p.Tyr142His) rs111554140 0.00061
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_021005.4(NR2F2):c.537C>T (p.Ser179=) rs143951395 0.00055
NM_080473.5(GATA5):c.83C>T (p.Ala28Val) rs112701160 0.00038
NM_021005.4(NR2F2):c.129C>G (p.Pro43=) rs551936462 0.00029
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg) rs140317494 0.00026
NM_021005.4(NR2F2):c.834G>A (p.Ser278=) rs199886454 0.00021
NM_021005.4(NR2F2):c.816C>G (p.Ala272=) rs76163938 0.00019
NM_001492.6(GDF1):c.599G>A (p.Gly200Asp) rs573559104 0.00015
NM_021005.4(NR2F2):c.970+18C>A rs373488143 0.00015
NM_021005.4(NR2F2):c.1242A>G (p.Gln414=) rs140022547 0.00009
NM_021005.4(NR2F2):c.357G>C (p.Arg119=) rs137861279 0.00007
NM_001292034.3(TAB2):c.1535C>G (p.Ala512Gly) rs763663979 0.00004
NM_001292034.3(TAB2):c.21A>G (p.Gln7=) rs553008331 0.00004
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) rs901462929 0.00004
NM_021005.4(NR2F2):c.264C>G (p.Gly88=) rs757445345 0.00004
NM_021005.4(NR2F2):c.843C>T (p.Ser281=) rs1006491294 0.00003
NM_001292034.3(TAB2):c.1025G>A (p.Arg342His) rs750390016 0.00002
NM_021005.4(NR2F2):c.443-5C>T rs374487006 0.00002
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) rs1236325542 0.00002
NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser) rs267607101 0.00001
NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys) rs267607100 0.00001
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro) rs2055941159 0.00001
NM_001492.6(GDF1):c.596T>C (p.Leu199Pro) rs868026629 0.00001
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn) rs1429110767 0.00001
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp) rs1476787716 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_021005.4(NR2F2):c.1206C>T (p.Ser402=) rs757077299 0.00001
NM_021005.4(NR2F2):c.789C>T (p.Pro263=) rs1174849712 0.00001
NM_021005.4(NR2F2):c.882C>T (p.Ile294=) rs1163679972 0.00001
NM_021005.4(NR2F2):c.918C>T (p.His306=) rs751816358 0.00001
NM_021005.4(NR2F2):c.971-11C>T rs1208596248 0.00001
NM_080473.5(GATA5):c.695G>A (p.Arg232His) rs753656900 0.00001
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1
NC_000015.9:g.(?_96875335)_(96880851_?)dup
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
NM_001292034.3(TAB2):c.1056del (p.Ser353fs)
NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter) rs2114886711
NM_001292034.3(TAB2):c.1105dup (p.Ile369fs)
NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu) rs71568273
NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter) rs1554263321
NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs) rs2114887873
NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter) rs2114887942
NM_001292034.3(TAB2):c.1398dup (p.Thr467fs) rs1781524947
NM_001292034.3(TAB2):c.1433_1448del (p.Pro478fs)
NM_001292034.3(TAB2):c.1462dup (p.Thr488fs)
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.1501G>T (p.Glu501Ter)
NM_001292034.3(TAB2):c.1522del (p.Asp508fs)
NM_001292034.3(TAB2):c.1526del (p.Pro509fs) rs1781533816
NM_001292034.3(TAB2):c.1547_1551del (p.Arg516fs)
NM_001292034.3(TAB2):c.1572del (p.Ser524fs)
NM_001292034.3(TAB2):c.1580C>T (p.Ser527Phe)
NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)
NM_001292034.3(TAB2):c.1739C>A (p.Ser580Ter)
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001292034.3(TAB2):c.17A>G (p.His6Arg)
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr) rs1562459581
NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys) rs1781470267
NM_001292034.3(TAB2):c.441del (p.Ala148fs) rs1583139711
NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter) rs2114883576
NM_001292034.3(TAB2):c.473_474del (p.His158fs)
NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu)
NM_001292034.3(TAB2):c.622_626del (p.Pro208fs) rs1781486601
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter) rs2114885325
NM_001292034.3(TAB2):c.878del (p.Ser293fs) rs1554263268
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter) rs900625437
NM_001492.6(GDF1):c.537del (p.Pro180fs)
NM_001492.6(GDF1):c.649C>G (p.Leu217Val) rs2055909840
NM_005901.6(SMAD2):c.237-12A>G rs1402819968
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) rs1064793873
NM_005901.6(SMAD2):c.784+1G>A rs397509416
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) rs797044882
NM_015103.3(PLXND1):c.2240C>T (p.Thr747Met)
NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)
NM_015103.3(PLXND1):c.2870C>T (p.Pro957Leu)
NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)
NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)
NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)
NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu) rs1474147673
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=) rs767004289
NM_021005.4(NR2F2):c.1019del (p.Lys340fs)
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile) rs1596432381
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)
NM_021005.4(NR2F2):c.1234G>T (p.Ala412Ser)
NM_021005.4(NR2F2):c.150C>T (p.Ser50=)
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg) rs1381103214
NM_021005.4(NR2F2):c.210G>A (p.Lys70=) rs1899171814
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) rs780808943
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter) rs1899172049
NM_021005.4(NR2F2):c.237C>T (p.Cys79=)
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter) rs1555447012
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021005.4(NR2F2):c.276C>T (p.Gly92=) rs1332151769
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu) rs1899174214
NM_021005.4(NR2F2):c.36G>A (p.Gln12=) rs2141166624
NM_021005.4(NR2F2):c.414G>A (p.Lys138=) rs1373249033
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)
NM_021005.4(NR2F2):c.456C>T (p.Gly152=)
NM_021005.4(NR2F2):c.468G>T (p.Pro156=) rs746596432
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg) rs2141169030
NM_021005.4(NR2F2):c.558dup (p.Arg187fs)
NM_021005.4(NR2F2):c.576del (p.Thr193fs)
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter) rs2141169116
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile) rs587777372
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)
NM_021005.4(NR2F2):c.648C>A (p.Ala216=)
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp) rs1899253390
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp) rs1899253743
NM_021005.4(NR2F2):c.684del (p.Asn229fs)
NM_021005.4(NR2F2):c.687C>T (p.Asn229=)
NM_021005.4(NR2F2):c.691C>A (p.Pro231Thr) rs2141169249
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter) rs878855066
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter) rs1567138573
NM_021005.4(NR2F2):c.819C>T (p.Ala273=)
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs) rs1555446983
NM_021005.4(NR2F2):c.856dup (p.Val286fs) rs886041730
NM_021005.4(NR2F2):c.879G>A (p.Arg293=)
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn) rs1899261470
NM_021005.4(NR2F2):c.958C>T (p.Leu320=) rs1596428579
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)
NM_021005.4(NR2F2):c.970+12_970+16dup rs563165104
NM_021005.4(NR2F2):c.970+1G>A rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs) rs1899167019
NM_021267.5(CERS1):c.*1120G>A rs2145985085
NM_080473.5(GATA5):c.226G>T (p.Gly76Cys)
NM_080473.5(GATA5):c.405G>T (p.Gly135=)
NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp) rs1555897088
NM_080473.5(GATA5):c.569T>C (p.Val190Ala) rs782051102
NM_080473.5(GATA5):c.595C>G (p.Leu199Val) rs1555896779
NM_080473.5(GATA5):c.598T>G (p.Trp200Gly) rs1555896778
NM_080473.5(GATA5):c.714C>T (p.Arg238=)
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys) rs143901995
NM_080473.5(GATA5):c.852G>A (p.Lys284=) rs6587239
NM_080473.5(GATA5):c.981G>C (p.Ser327=) rs6061243

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