ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as likely benign for Cardiovascular phenotype

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Total variants: 52
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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.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005159.5(ACTC1):c.246C>T (p.Asp82=) rs373261583 0.00009
NM_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062 0.00007
NM_005159.5(ACTC1):c.717G>A (p.Glu239=) rs369019849 0.00006
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743 0.00004
NM_005159.5(ACTC1):c.309C>T (p.His103=) rs769303249 0.00004
NM_005159.5(ACTC1):c.652C>T (p.Leu218=) rs760269526 0.00004
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
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.498C>T (p.Pro166=) rs370082904 0.00003
NM_005159.5(ACTC1):c.180C>T (p.Ala60=) rs370322510 0.00002
NM_005159.5(ACTC1):c.333G>A (p.Pro111=) rs774767260 0.00002
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995 0.00002
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=) rs1430980455 0.00001
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=) rs764683976 0.00001
NM_005159.5(ACTC1):c.12C>T (p.Asp4=) rs768526036 0.00001
NM_005159.5(ACTC1):c.240C>T (p.Asn80=) rs1178754602 0.00001
NM_005159.5(ACTC1):c.369G>A (p.Gln123=) rs768169477 0.00001
NM_005159.5(ACTC1):c.423G>A (p.Val141=) rs922191208 0.00001
NM_005159.5(ACTC1):c.441T>C (p.Ser147=) rs1199593688 0.00001
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069 0.00001
NM_005159.5(ACTC1):c.633C>T (p.Val211=) rs199947846 0.00001
NM_005159.5(ACTC1):c.663C>T (p.Val221=) rs766868624 0.00001
NM_005159.5(ACTC1):c.756T>C (p.Ile252=) rs371940910 0.00001
NM_005159.5(ACTC1):c.93T>C (p.Ala31=) rs1341945129 0.00001
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)
NM_005159.5(ACTC1):c.121C>A (p.Arg41=)
NM_005159.5(ACTC1):c.225T>C (p.His75=)
NM_005159.5(ACTC1):c.231C>T (p.Ile77=)
NM_005159.5(ACTC1):c.24C>A (p.Thr8=)
NM_005159.5(ACTC1):c.30G>A (p.Leu10=)
NM_005159.5(ACTC1):c.327G>A (p.Glu109=)
NM_005159.5(ACTC1):c.408G>C (p.Val136=)
NM_005159.5(ACTC1):c.438T>C (p.Ala146=)
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.597C>A (p.Gly199=) rs1595760921
NM_005159.5(ACTC1):c.738T>C (p.Asp246=)
NM_005159.5(ACTC1):c.741C>A (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.75C>A (p.Gly25=)
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
NM_005159.5(ACTC1):c.789C>G (p.Leu263=)
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.843C>T (p.Tyr281=)
NM_005159.5(ACTC1):c.870T>C (p.Asp290=)
NM_005159.5(ACTC1):c.90C>A (p.Arg30=)
NM_005159.5(ACTC1):c.915C>T (p.Thr305=) rs1049511214
NM_005159.5(ACTC1):c.975C>T (p.Ser325=) rs939520463
NM_005159.5(ACTC1):c.9C>T (p.Asp3=) rs535623090

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