ClinVar Miner

List of variants studied for Hypoplastic left heart syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.08165
NM_000165.5(GJA1):c.*968T>C rs111878880 0.06674
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_000165.5(GJA1):c.*173G>A rs72548744 0.03954
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.*1733C>T rs78394273 0.00282
NM_000165.5(GJA1):c.*214G>A rs549064986 0.00212
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
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_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.*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_000165.5(GJA1):c.*1334T>C rs749953074 0.00010
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000165.5(GJA1):c.-135C>T rs539558089 0.00007
NM_000165.5(GJA1):c.-161G>T rs764033415 0.00007
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000165.5(GJA1):c.*1143T>G rs765423162 0.00003
NM_000165.5(GJA1):c.*538G>A rs886061014 0.00003
NM_000165.5(GJA1):c.-197T>G rs1387189062 0.00002
NM_000165.5(GJA1):c.-87C>T rs1263521795 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_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.-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>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

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