ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as likely benign for not specified

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005159.5(ACTC1):c.246C>T (p.Asp82=) rs373261583 0.00009
NM_005159.5(ACTC1):c.455-7C>T rs768363857 0.00009
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062 0.00007
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728 0.00003
NM_005159.5(ACTC1):c.*5C>G rs756594449 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_005159.5(ACTC1):c.294G>A (p.Val98=) rs397517058 0.00002
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995 0.00002
NM_005159.5(ACTC1):c.-17C>G rs1411090601 0.00001
NM_005159.5(ACTC1):c.-44G>A rs909469426 0.00001
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=) rs758173419 0.00001
NM_005159.5(ACTC1):c.663C>T (p.Val221=) rs766868624 0.00001
NM_005159.5(ACTC1):c.81C>T (p.Asp27=) rs753552901 0.00001
NM_005159.5(ACTC1):c.-36CCGCC[3] rs1064795891
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.1083G>A (p.Lys361=) rs754736799
NM_005159.5(ACTC1):c.129+12_129+13delinsCT rs1555418997
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.130-15T>G rs376417852
NM_005159.5(ACTC1):c.130-17A>C rs1057523026
NM_005159.5(ACTC1):c.42C>T (p.Asn14=) rs1257278537
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.616+8T>C rs397517066
NM_005159.5(ACTC1):c.633C>A (p.Val211=) rs199947846
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
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.840T>C (p.Thr280=) rs1057522193
NM_005159.5(ACTC1):c.915C>T (p.Thr305=) rs1049511214
NM_005159.5(ACTC1):c.918T>A (p.Thr306=) rs397517074

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