ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT studied for Primary dilated cardiomyopathy

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) rs730880038
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379

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