ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as likely benign by GeneDx

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.991-262C>T rs116419104 0.01331
NM_005159.5(ACTC1):c.129+32C>A rs76013827 0.01002
NM_005159.5(ACTC1):c.990+64C>T rs2307494 0.00741
NM_005159.5(ACTC1):c.129+219_129+224del rs527292617 0.00502
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.*16C>T rs201258118 0.00006
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743 0.00004
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728 0.00003
NM_005159.5(ACTC1):c.399C>T (p.Ala133=) rs764630691 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.809-8G>A rs767180775 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.369G>A (p.Gln123=) rs768169477 0.00001
NM_005159.5(ACTC1):c.663C>T (p.Val221=) rs766868624 0.00001
NM_005159.5(ACTC1):c.-36CCGCC[3] rs1064795891
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+6C>G rs564151494
NM_005159.5(ACTC1):c.130-15T>G rs376417852
NM_005159.5(ACTC1):c.130-17A>C rs1057523026
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.633C>A (p.Val211=) rs199947846
NM_005159.5(ACTC1):c.840T>C (p.Thr280=) rs1057522193
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.990+6G>A rs749154513

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