ClinVar Miner

List of variants studied for congenital left-sided heart lesions

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.07847
NM_000165.5(GJA1):c.*968T>C rs111878880 0.06674
NM_000165.5(GJA1):c.*3dup rs397824185 0.05632
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828 0.04584
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899 0.04339
NM_000165.5(GJA1):c.*173G>A rs72548744 0.04098
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_000165.5(GJA1):c.*243A>G rs139128953 0.00907
NC_000006.12:g.121449729C>T rs78394273 0.00433
NM_000165.5(GJA1):c.-67C>G rs111581053 0.00310
NM_004821.3(HAND1):c.162G>A (p.Pro54=) rs138460675 0.00236
NM_000165.5(GJA1):c.*214G>A rs549064986 0.00212
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313 0.00175
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00079
NM_000165.5(GJA1):c.*119T>C rs72548742 0.00073
NM_004821.3(HAND1):c.180G>A (p.Gly60=) rs369386099 0.00064
NM_000165.5(GJA1):c.*498G>A rs575593821 0.00063
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_000165.5(GJA1):c.*285A>T rs72548748 0.00040
NM_004821.3(HAND1):c.518G>T (p.Arg173Leu) rs146912397 0.00032
NM_000165.5(GJA1):c.*1252A>G rs976353489 0.00029
NM_004821.3(HAND1):c.566C>T (p.Pro189Leu) rs147677474 0.00026
NM_004821.3(HAND1):c.46C>A (p.Pro16Thr) rs200556971 0.00025
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser) rs375198063 0.00023
NM_000165.5(GJA1):c.*521G>C rs1270925038 0.00022
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_000165.5(GJA1):c.*926A>T rs765290352 0.00015
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00015
NM_000165.5(GJA1):c.*1077T>C rs528853645 0.00013
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00013
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_000165.5(GJA1):c.*444A>G rs919415571 0.00011
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_000165.5(GJA1):c.*1334T>C rs749953074 0.00010
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00010
NM_004821.3(HAND1):c.202G>C (p.Ala68Pro) rs374965548 0.00010
NM_004821.3(HAND1):c.252G>A (p.Arg84=) rs576744103 0.00010
NM_004821.3(HAND1):c.454A>G (p.Lys152Glu) rs762375465 0.00010
NM_000165.5(GJA1):c.*191G>A rs886061012 0.00009
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
NM_000165.5(GJA1):c.-135C>T rs539558089 0.00007
NM_000165.5(GJA1):c.-161G>T rs764033415 0.00007
NM_004821.3(HAND1):c.146C>G (p.Pro49Arg) rs748866943 0.00007
NM_004821.3(HAND1):c.279C>T (p.Gly93=) rs201302137 0.00007
NM_004821.3(HAND1):c.76C>T (p.Pro26Ser) rs528298246 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004821.3(HAND1):c.339A>G (p.Ala113=) rs150104384 0.00006
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00005
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_004821.3(HAND1):c.447G>A (p.Val149=) rs765762725 0.00005
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu) rs781260821 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys) rs564241048 0.00004
NM_004821.3(HAND1):c.219T>C (p.Gly73=) rs6880185 0.00004
NM_000165.5(GJA1):c.*1143T>G rs765423162 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931 0.00003
NM_004821.3(HAND1):c.173C>A (p.Ala58Glu) rs201496181 0.00003
NM_004821.3(HAND1):c.186G>T (p.Pro62=) rs748732968 0.00003
NM_004821.3(HAND1):c.88G>A (p.Gly30Ser) rs753450334 0.00003
NM_000165.5(GJA1):c.*538G>A rs886061014 0.00002
NM_000165.5(GJA1):c.-197T>G rs1387189062 0.00002
NM_000165.5(GJA1):c.-87C>T rs1263521795 0.00002
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) rs769233111 0.00002
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00002
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg) rs768965463 0.00002
NM_004821.3(HAND1):c.174G>C (p.Ala58=) rs761768832 0.00002
NM_004821.3(HAND1):c.579A>C (p.Pro193=) rs1037877952 0.00002
NM_000165.5(GJA1):c.*635C>T rs886061015 0.00001
NM_000165.5(GJA1):c.*916_*918del rs886061018 0.00001
NM_000165.5(GJA1):c.-188G>T rs886061008 0.00001
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) rs772121642 0.00001
NM_000165.5(GJA1):c.270C>G (p.Leu90=) rs886061009 0.00001
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu) rs750243405 0.00001
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr) rs143026885 0.00001
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) rs1761356979 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 0.00001
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) rs776310516 0.00001
NM_004821.3(HAND1):c.110A>G (p.Gln37Arg) rs533319519 0.00001
NM_004821.3(HAND1):c.111G>C (p.Gln37His) rs759535790 0.00001
NM_004821.3(HAND1):c.126C>A (p.Phe42Leu) rs776751181 0.00001
NM_004821.3(HAND1):c.135G>T (p.Trp45Cys) rs772706064 0.00001
NM_004821.3(HAND1):c.161C>T (p.Pro54Leu) rs780969396 0.00001
NM_004821.3(HAND1):c.183G>A (p.Pro61=) rs774965575 0.00001
NM_004821.3(HAND1):c.1A>G (p.Met1Val) rs763806635 0.00001
NM_004821.3(HAND1):c.204C>T (p.Ala68=) rs746848071 0.00001
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys) rs764242373 0.00001
NM_004821.3(HAND1):c.235G>C (p.Gly79Arg) rs1176090594 0.00001
NM_004821.3(HAND1):c.237G>A (p.Gly79=) rs1415491664 0.00001
NM_004821.3(HAND1):c.245C>T (p.Pro82Leu) rs772538065 0.00001
NM_004821.3(HAND1):c.257A>T (p.Glu86Val) rs1177737621 0.00001
NM_004821.3(HAND1):c.308A>G (p.Glu103Gly) rs1182283102 0.00001
NM_004821.3(HAND1):c.345G>T (p.Ala115=) rs1043638166 0.00001
NM_004821.3(HAND1):c.357G>C (p.Glu119Asp) rs775093878 0.00001
NM_004821.3(HAND1):c.370G>T (p.Val124Leu) rs745686103 0.00001
NM_004821.3(HAND1):c.37C>T (p.His13Tyr) rs769999347 0.00001
NM_004821.3(HAND1):c.422G>A (p.Ser141Asn) rs1303293556 0.00001
NM_004821.3(HAND1):c.479A>G (p.Glu160Gly) rs987403652 0.00001
NM_004821.3(HAND1):c.480G>A (p.Glu160=) rs1201471420 0.00001
NM_004821.3(HAND1):c.500A>G (p.Lys167Arg) rs202139442 0.00001
NM_004821.3(HAND1):c.512G>A (p.Gly171Asp) rs201984942 0.00001
NM_004821.3(HAND1):c.543+19A>T rs1398783316 0.00001
NM_004821.3(HAND1):c.544-18C>G rs933165391 0.00001
NM_004821.3(HAND1):c.551A>T (p.His184Leu) rs1246794989 0.00001
NM_004821.3(HAND1):c.562C>G (p.Pro188Ala) rs929460819 0.00001
NM_004821.3(HAND1):c.565C>T (p.Pro189Ser) rs1389554299 0.00001
NM_004821.3(HAND1):c.606C>T (p.Thr202=) rs1467632014 0.00001
NM_004821.3(HAND1):c.609C>G (p.Gly203=) rs773154099 0.00001
NM_004821.3(HAND1):c.647G>A (p.Ter216=) rs749591449 0.00001
NM_004821.3(HAND1):c.7C>G (p.Leu3Val) rs1299508908 0.00001
NM_004821.3(HAND1):c.96C>T (p.Ala32=) rs755831294 0.00001
46;XY;inv(10)(q21.2q22.3)pat
GRCh37/hg19 15q11.2(chr15:22770421-23282799)
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265)
GRCh37/hg19 9q34.3(chr9:139315643-139465759)x1
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2
NC_000005.9:g.(?_153855366)_(153857568_?)del
NC_000005.9:g.(?_153855366)_(153857568_?)dup
NM_000165.5(GJA1):c.*1018_*1021del rs375943953
NM_000165.5(GJA1):c.*1020_*1021del rs375943953
NM_000165.5(GJA1):c.*1043T>C rs886061021
NM_000165.5(GJA1):c.*1101T>C rs886061022
NM_000165.5(GJA1):c.*1204A>G rs1773943656
NM_000165.5(GJA1):c.*163G>A rs886061011
NM_000165.5(GJA1):c.*212A>T rs1408036306
NM_000165.5(GJA1):c.*301C>T rs72548749
NM_000165.5(GJA1):c.*47A>G rs886061010
NM_000165.5(GJA1):c.*529C>G rs886061013
NM_000165.5(GJA1):c.*694T>C rs886061016
NM_000165.5(GJA1):c.*750G>A rs1773934302
NM_000165.5(GJA1):c.*772_*773dup rs397698276
NM_000165.5(GJA1):c.*773del rs397698276
NM_000165.5(GJA1):c.*773dup rs397698276
NM_000165.5(GJA1):c.*832C>G rs773394030
NM_000165.5(GJA1):c.*888C>A rs1329687638
NM_000165.5(GJA1):c.*992G>A rs903940354
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.129A>G (p.Ser43=) rs749135596
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro) rs1773914179
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr) rs1773914309
NM_000165.5(GJA1):c.932del (p.Ala311fs) rs778110855
NM_001077653.2(TBX20):c.995del (p.Pro332fs) rs1554284604
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) rs1603251494
NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter) rs2148138686
NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp) rs2502193523
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser) rs1358735679
NM_004821.3(HAND1):c.10G>A (p.Val4Met) rs767528053
NM_004821.3(HAND1):c.112G>A (p.Glu38Lys) rs1757574571
NM_004821.3(HAND1):c.117G>C (p.Arg39Ser) rs2113303993
NM_004821.3(HAND1):c.118C>A (p.Pro40Thr) rs1757574498
NM_004821.3(HAND1):c.132C>G (p.Ser44Arg) rs145232171
NM_004821.3(HAND1):c.147G>C (p.Pro49=)
NM_004821.3(HAND1):c.152A>T (p.Asp51Val) rs1365842411
NM_004821.3(HAND1):c.154G>A (p.Ala52Thr)
NM_004821.3(HAND1):c.158C>T (p.Ala53Val) rs1251644234
NM_004821.3(HAND1):c.159C>G (p.Ala53=)
NM_004821.3(HAND1):c.159C>T (p.Ala53=)
NM_004821.3(HAND1):c.161C>G (p.Pro54Arg) rs780969396
NM_004821.3(HAND1):c.168C>G (p.Phe56Leu) rs1202928556
NM_004821.3(HAND1):c.173C>T (p.Ala58Val) rs201496181
NM_004821.3(HAND1):c.174G>A (p.Ala58=) rs761768832
NM_004821.3(HAND1):c.174G>T (p.Ala58=) rs761768832
NM_004821.3(HAND1):c.178G>C (p.Gly60Arg)
NM_004821.3(HAND1):c.182C>A (p.Pro61Gln) rs760076464
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser) rs772843786
NM_004821.3(HAND1):c.196G>A (p.Ala66Thr) rs1190602578
NM_004821.3(HAND1):c.210C>A (p.Thr70=) rs1261595474
NM_004821.3(HAND1):c.225C>T (p.Asp75=) rs752995620
NM_004821.3(HAND1):c.22G>T (p.Ala8Ser)
NM_004821.3(HAND1):c.231G>T (p.Arg77Ser) rs1373952727
NM_004821.3(HAND1):c.250C>G (p.Arg84Gly) rs1167066563
NM_004821.3(HAND1):c.261G>T (p.Ala87=) rs768347498
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser) rs369296058
NM_004821.3(HAND1):c.271C>G (p.Arg91Gly) rs369296058
NM_004821.3(HAND1):c.280C>A (p.Arg94=) rs777670897
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys) rs878854746
NM_004821.3(HAND1):c.29ATCACCACC[1] (p.His13_His15del) rs754696027
NM_004821.3(HAND1):c.319A>C (p.Thr107Pro)
NM_004821.3(HAND1):c.339A>C (p.Ala113=) rs150104384
NM_004821.3(HAND1):c.355G>C (p.Glu119Gln) rs1400422414
NM_004821.3(HAND1):c.364C>T (p.Pro122Ser) rs1481488405
NM_004821.3(HAND1):c.36C>A (p.His12Gln) rs1347266849
NM_004821.3(HAND1):c.36C>T (p.His12=)
NM_004821.3(HAND1):c.370G>A (p.Val124Met) rs745686103
NM_004821.3(HAND1):c.374C>G (p.Pro125Arg) rs1405443403
NM_004821.3(HAND1):c.374C>T (p.Pro125Leu) rs1405443403
NM_004821.3(HAND1):c.375G>A (p.Pro125=)
NM_004821.3(HAND1):c.379G>T (p.Asp127Tyr) rs1440191810
NM_004821.3(HAND1):c.400A>T (p.Lys134Ter) rs974646425
NM_004821.3(HAND1):c.402G>T (p.Lys134Asn)
NM_004821.3(HAND1):c.410G>T (p.Arg137Leu)
NM_004821.3(HAND1):c.420C>T (p.Thr140=) rs2532477134
NM_004821.3(HAND1):c.444C>A (p.Asp148Glu)
NM_004821.3(HAND1):c.445G>T (p.Val149Leu)
NM_004821.3(HAND1):c.44A>C (p.His15Pro)
NM_004821.3(HAND1):c.455A>C (p.Lys152Thr) rs2532476987
NM_004821.3(HAND1):c.468T>C (p.Ser156=) rs34402828
NM_004821.3(HAND1):c.473A>T (p.Asp158Val) rs2532476882
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe) rs2113303062
NM_004821.3(HAND1):c.4A>G (p.Asn2Asp)
NM_004821.3(HAND1):c.504G>A (p.Lys168=) rs2113303031
NM_004821.3(HAND1):c.516C>A (p.Gly172=) rs2532476775
NM_004821.3(HAND1):c.51C>G (p.His17Gln) rs1757575870
NM_004821.3(HAND1):c.535A>T (p.Arg179Trp) rs2532476717
NM_004821.3(HAND1):c.544-13T>G rs371697798
NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro) rs2532478528
NM_004821.3(HAND1):c.564T>C (p.Pro188=) rs1561710559
NM_004821.3(HAND1):c.574G>A (p.Gly192Ser) rs2113300916
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg) rs878854747
NM_004821.3(HAND1):c.599G>A (p.Gly200Glu)
NM_004821.3(HAND1):c.600A>C (p.Gly200=) rs942295767
NM_004821.3(HAND1):c.600A>G (p.Gly200=) rs942295767
NM_004821.3(HAND1):c.604A>G (p.Thr202Ala) rs2113300864
NM_004821.3(HAND1):c.608G>C (p.Gly203Ala) rs762786810
NM_004821.3(HAND1):c.613C>A (p.Pro205Thr)
NM_004821.3(HAND1):c.615G>C (p.Pro205=) rs368908340
NM_004821.3(HAND1):c.615G>T (p.Pro205=) rs368908340
NM_004821.3(HAND1):c.628G>C (p.Ala210Pro)
NM_004821.3(HAND1):c.629C>T (p.Ala210Val)
NM_004821.3(HAND1):c.62C>T (p.Pro21Leu) rs780396101
NM_004821.3(HAND1):c.640A>C (p.Asn214His) rs2532473651
NM_004821.3(HAND1):c.66_73dup (p.Glu25fs) rs1193545616
NM_004821.3(HAND1):c.67C>T (p.Leu23Phe) rs1389429025
NM_004821.3(HAND1):c.6C>A (p.Asn2Lys) rs760607439
NM_004821.3(HAND1):c.72C>G (p.His24Gln) rs2532478477
NM_004821.3(HAND1):c.7C>A (p.Leu3Ile)
NM_004821.3(HAND1):c.7C>T (p.Leu3Phe)
NM_004821.3(HAND1):c.98C>T (p.Ser33Leu)
NM_014209.4(ETV2):c.350del (p.Gly117fs) rs755996862
NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr) rs371833362
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter) rs202235419
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs) rs1843262329
NM_017617.5(NOTCH1):c.2741-1G>A rs1843152606
NM_017617.5(NOTCH1):c.5385-1G>A rs1843006535
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022

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