ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728 0.00003
NM_005159.5(ACTC1):c.42C>T (p.Asn14=) rs1257278537
NM_005159.5(ACTC1):c.809-16del
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[18] rs59431308
NM_005159.5(ACTC1):c.809-58TG[27] rs59431308
NM_005159.5(ACTC1):c.809-58TG[36] rs59431308
NM_005159.5(ACTC1):c.915C>T (p.Thr305=) rs1049511214

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