ClinVar Miner

List of variants reported as uncertain significance for congenital left-sided heart lesions

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
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_000165.5(GJA1):c.*243A>G rs139128953 0.00907
NM_000165.5(GJA1):c.-67C>G rs111581053 0.00310
NM_000165.5(GJA1):c.*214G>A rs549064986 0.00212
NM_000165.5(GJA1):c.*119T>C rs72548742 0.00071
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 0.00042
NM_000165.5(GJA1):c.*1252A>G rs976353489 0.00029
NM_004821.3(HAND1):c.566C>T (p.Pro189Leu) rs147677474 0.00026
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 0.00016
NM_000165.5(GJA1):c.*1077T>C rs528853645 0.00014
NM_000165.5(GJA1):c.*191G>A rs886061012 0.00013
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 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_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_000165.5(GJA1):c.*1334T>C rs749953074 0.00010
NM_004821.3(HAND1):c.202G>C (p.Ala68Pro) rs374965548 0.00010
NM_004821.3(HAND1):c.454A>G (p.Lys152Glu) rs762375465 0.00010
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_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 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_000165.5(GJA1):c.*1143T>G rs765423162 0.00003
NM_000165.5(GJA1):c.*538G>A rs886061014 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
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.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg) rs768965463 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.1015G>A (p.Asp339Asn) rs772121642 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.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.135G>T (p.Trp45Cys) rs772706064 0.00001
NM_004821.3(HAND1):c.152A>T (p.Asp51Val) rs1365842411 0.00001
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser) rs772843786 0.00001
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys) rs764242373 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.370G>T (p.Val124Leu) rs745686103 0.00001
NM_004821.3(HAND1):c.551A>T (p.His184Leu) rs1246794989 0.00001
GRCh37/hg19 15q11.2(chr15:22770421-23282799)
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.*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.*773del 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.-188G>T rs886061008
NM_000165.5(GJA1):c.129A>G (p.Ser43=) rs749135596
NM_000165.5(GJA1):c.270C>G (p.Leu90=) rs886061009
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_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter) rs2148138686
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.763G>A (p.Ala255Thr) rs759518211
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004821.3(HAND1):c.10G>A (p.Val4Met)
NM_004821.3(HAND1):c.110A>G (p.Gln37Arg)
NM_004821.3(HAND1):c.111G>C (p.Gln37His)
NM_004821.3(HAND1):c.112G>A (p.Glu38Lys)
NM_004821.3(HAND1):c.117G>C (p.Arg39Ser) rs2113303993
NM_004821.3(HAND1):c.118C>A (p.Pro40Thr)
NM_004821.3(HAND1):c.126C>A (p.Phe42Leu)
NM_004821.3(HAND1):c.132C>G (p.Ser44Arg)
NM_004821.3(HAND1):c.146C>G (p.Pro49Arg)
NM_004821.3(HAND1):c.158C>T (p.Ala53Val)
NM_004821.3(HAND1):c.161C>G (p.Pro54Arg) rs780969396
NM_004821.3(HAND1):c.161C>T (p.Pro54Leu)
NM_004821.3(HAND1):c.168C>G (p.Phe56Leu)
NM_004821.3(HAND1):c.173C>A (p.Ala58Glu)
NM_004821.3(HAND1):c.173C>T (p.Ala58Val)
NM_004821.3(HAND1):c.182C>A (p.Pro61Gln)
NM_004821.3(HAND1):c.196G>A (p.Ala66Thr)
NM_004821.3(HAND1):c.1A>G (p.Met1Val)
NM_004821.3(HAND1):c.231G>T (p.Arg77Ser)
NM_004821.3(HAND1):c.235G>C (p.Gly79Arg)
NM_004821.3(HAND1):c.250C>G (p.Arg84Gly)
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser) rs369296058
NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys) rs878854746
NM_004821.3(HAND1):c.29ATCACCACC[1] (p.His13_His15del)
NM_004821.3(HAND1):c.308A>G (p.Glu103Gly)
NM_004821.3(HAND1):c.355G>C (p.Glu119Gln)
NM_004821.3(HAND1):c.364C>T (p.Pro122Ser)
NM_004821.3(HAND1):c.36C>A (p.His12Gln)
NM_004821.3(HAND1):c.370G>A (p.Val124Met)
NM_004821.3(HAND1):c.374C>G (p.Pro125Arg)
NM_004821.3(HAND1):c.374C>T (p.Pro125Leu)
NM_004821.3(HAND1):c.379G>T (p.Asp127Tyr)
NM_004821.3(HAND1):c.37C>T (p.His13Tyr)
NM_004821.3(HAND1):c.400A>T (p.Lys134Ter) rs974646425
NM_004821.3(HAND1):c.422G>A (p.Ser141Asn)
NM_004821.3(HAND1):c.455A>C (p.Lys152Thr)
NM_004821.3(HAND1):c.473A>T (p.Asp158Val)
NM_004821.3(HAND1):c.479A>G (p.Glu160Gly)
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe) rs2113303062
NM_004821.3(HAND1):c.500A>G (p.Lys167Arg)
NM_004821.3(HAND1):c.512G>A (p.Gly171Asp)
NM_004821.3(HAND1):c.51C>G (p.His17Gln)
NM_004821.3(HAND1):c.535A>T (p.Arg179Trp)
NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro)
NM_004821.3(HAND1):c.565C>T (p.Pro189Ser)
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.604A>G (p.Thr202Ala) rs2113300864
NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)
NM_004821.3(HAND1):c.62C>T (p.Pro21Leu) rs780396101
NM_004821.3(HAND1):c.640A>C (p.Asn214His)
NM_004821.3(HAND1):c.647G>A (p.Ter216=)
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)
NM_004821.3(HAND1):c.72C>G (p.His24Gln)
NM_004821.3(HAND1):c.7C>G (p.Leu3Val)
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022

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