ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.809-58TG[14] rs59431308
NM_005159.5(ACTC1):c.809-58TG[15] rs59431308
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[19] rs59431308
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.809-58TG[31]

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