ClinVar Miner

List of variants in gene ACTB reported as likely pathogenic for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.773C>T (p.Pro258Leu) rs1554329281
NM_001101.5(ACTB):c.779C>A (p.Ala260Glu) rs1784808970
NM_001101.5(ACTB):c.888C>G (p.Asn296Lys) rs769182426

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