ClinVar Miner

List of variants reported as uncertain significance for congenital left-sided heart lesions by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
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.*1334T>C
NM_000165.5(GJA1):c.*163G>A rs886061011
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.*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.*773del 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.*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.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.706G>A (p.Val236Ile)
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr)
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.886T>C (p.Ser296Pro)
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr)

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