ClinVar Miner

List of variants in gene GJA1 reported as likely benign for congenital left-sided heart lesions

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000165.5(GJA1):c.*1018_*1021del rs375943953
NM_000165.5(GJA1):c.*772_*773dup rs397698276
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537

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