ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr) rs370256882 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) rs1566967697
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile) rs1379875828
NM_005159.5(ACTC1):c.809-14del rs1891700511
NM_005159.5(ACTC1):c.809-18del rs1891700805
NM_005159.5(ACTC1):c.809-58TG[33] rs59431308

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