ClinVar Miner

List of variants studied for congenital left-sided heart lesions

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP
46;XY;inv(10)(q21.2q22.3)pat
GRCh37/hg19 9q34.3(chr9:139315643-139465759)x1
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2
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.*1077T>C rs528853645
NM_000165.5(GJA1):c.*1101T>C rs886061022
NM_000165.5(GJA1):c.*1143T>G
NM_000165.5(GJA1):c.*119T>C rs72548742
NM_000165.5(GJA1):c.*1204A>G
NM_000165.5(GJA1):c.*1252A>G
NM_000165.5(GJA1):c.*1322A>T rs12212865
NM_000165.5(GJA1):c.*1334T>C
NM_000165.5(GJA1):c.*163G>A rs886061011
NM_000165.5(GJA1):c.*1733C>T rs78394273
NM_000165.5(GJA1):c.*173G>A rs72548744
NM_000165.5(GJA1):c.*191G>A rs886061012
NM_000165.5(GJA1):c.*212A>T
NM_000165.5(GJA1):c.*214G>A rs549064986
NM_000165.5(GJA1):c.*243A>G rs139128953
NM_000165.5(GJA1):c.*285A>T rs72548748
NM_000165.5(GJA1):c.*301C>T
NM_000165.5(GJA1):c.*3dup rs397824185
NM_000165.5(GJA1):c.*444A>G
NM_000165.5(GJA1):c.*47A>G rs886061010
NM_000165.5(GJA1):c.*498G>A
NM_000165.5(GJA1):c.*521G>C
NM_000165.5(GJA1):c.*529C>G rs886061013
NM_000165.5(GJA1):c.*538G>A rs886061014
NM_000165.5(GJA1):c.*635C>T rs886061015
NM_000165.5(GJA1):c.*694T>C rs886061016
NM_000165.5(GJA1):c.*750G>A
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
NM_000165.5(GJA1):c.*888C>A
NM_000165.5(GJA1):c.*916_*918del rs886061018
NM_000165.5(GJA1):c.*926A>T
NM_000165.5(GJA1):c.*968T>C rs111878880
NM_000165.5(GJA1):c.*992G>A
NM_000165.5(GJA1):c.-135C>T rs539558089
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000165.5(GJA1):c.-161G>T rs764033415
NM_000165.5(GJA1):c.-188G>T rs886061008
NM_000165.5(GJA1):c.-197T>G
NM_000165.5(GJA1):c.-67C>G rs111581053
NM_000165.5(GJA1):c.-87C>T
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) rs772121642
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218
NM_000165.5(GJA1):c.129A>G (p.Ser43=)
NM_000165.5(GJA1):c.270C>G (p.Leu90=) rs886061009
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu)
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259
NM_000165.5(GJA1):c.706G>A (p.Val236Ile)
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr)
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.717G>C (p.Arg239=)
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn)
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro)
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr)
NM_001077653.2(TBX20):c.995del (p.Pro332fs) rs1554284604
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) rs1603251494
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys)
NM_004821.3(HAND1):c.162G>A (p.Pro54=) rs138460675
NM_004821.3(HAND1):c.174G>C (p.Ala58=) rs761768832
NM_004821.3(HAND1):c.180G>A (p.Gly60=) rs369386099
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser) rs772843786
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313
NM_004821.3(HAND1):c.252G>A (p.Arg84=)
NM_004821.3(HAND1):c.257A>T (p.Glu86Val) rs1177737621
NM_004821.3(HAND1):c.279C>T (p.Gly93=)
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys) rs878854746
NM_004821.3(HAND1):c.370G>T (p.Val124Leu)
NM_004821.3(HAND1):c.468T>C (p.Ser156=)
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899
NM_004821.3(HAND1):c.551A>T (p.His184Leu)
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg) rs878854747
NM_014209.4(ETV2):c.350del (p.Gly117fs)
NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter)
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs)
NM_017617.5(NOTCH1):c.2741-1G>A
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680
NM_017617.5(NOTCH1):c.5385-1G>A
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)
NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_080647.1(TBX1):c.1447G>A (p.Gly483Arg) rs541198585
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser) rs375198063

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