ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as uncertain significance for Cardiomyopathy

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00011
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00003
NM_005159.5(ACTC1):c.*5C>G rs756594449 0.00002
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00002
NM_005159.5(ACTC1):c.990+6G>C rs749154513 0.00002
NM_005159.5(ACTC1):c.-12A>G rs372036883 0.00001
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476 0.00001
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr) rs370256882 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser) rs1595761325 0.00001
NM_005159.5(ACTC1):c.454+5G>C rs756249146 0.00001
NM_005159.5(ACTC1):c.455-6G>A rs1359050330 0.00001
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr) rs1469206760 0.00001
NM_005159.5(ACTC1):c.*1G>A rs1226132498
NM_005159.5(ACTC1):c.*1G>T rs1226132498
NM_005159.5(ACTC1):c.-14G>C rs2140433368
NM_005159.5(ACTC1):c.-1G>A rs748380799
NM_005159.5(ACTC1):c.1078A>G (p.Ser360Gly) rs1891681614
NM_005159.5(ACTC1):c.1086_1088dup (p.Glu363dup) rs2140428968
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn) rs2140428952
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.129+3A>G rs763452221
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.130-13T>A rs1891753477
NM_005159.5(ACTC1):c.130-3T>C rs745838366
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile) rs944740404
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr) rs1555418912
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser) rs746748461
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys) rs1595761404
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) rs397517061
NM_005159.5(ACTC1):c.377T>G (p.Phe126Cys) rs1891746032
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val) rs1257864393
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.504T>A (p.Tyr168Ter) rs2140430970
NM_005159.5(ACTC1):c.505del (p.Glu169fs)
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val) rs730880392
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe) rs1891723828
NM_005159.5(ACTC1):c.617-1G>C
NM_005159.5(ACTC1):c.617-7T>A rs750536667
NM_005159.5(ACTC1):c.631_642del (p.Val211_Ile214del) rs2504180352
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu) rs730880399
NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu) rs2140430478
NM_005159.5(ACTC1):c.809-14_809-11delinsAA rs2504177797
NM_005159.5(ACTC1):c.809-1G>A rs1566967122
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.5(ACTC1):c.826A>T (p.Ile276Phe)
NM_005159.5(ACTC1):c.839C>G (p.Thr280Ser) rs1566967118
NM_005159.5(ACTC1):c.855G>A (p.Met285Ile) rs2504177620
NM_005159.5(ACTC1):c.940C>T (p.Arg314Cys) rs543030688
NM_005159.5(ACTC1):c.994A>G (p.Ile332Val) rs749354463
NM_005159.5(ACTC1):c.997G>T (p.Ala333Ser) rs267606629

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