ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT studied for Cardiomyopathy

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Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
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.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005159.5(ACTC1):c.141G>T (p.Val47=) rs1409682416 0.00016
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00014
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.717G>A (p.Glu239=) rs369019849 0.00006
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005159.5(ACTC1):c.309C>T (p.His103=) rs769303249 0.00004
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.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.51G>A (p.Gly17=) rs993704001 0.00003
NM_005159.5(ACTC1):c.616+6T>C rs574862389 0.00003
NM_005159.5(ACTC1):c.*5C>G rs756594449 0.00002
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser) rs746748461 0.00002
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965 0.00002
NM_005159.5(ACTC1):c.333G>A (p.Pro111=) rs774767260 0.00002
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=) rs181479041 0.00002
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484 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.991-13T>C rs1375741970 0.00002
NM_005159.5(ACTC1):c.-12A>G rs372036883 0.00001
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=) rs1430980455 0.00001
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=) rs1461497941 0.00001
NM_005159.5(ACTC1):c.108C>T (p.Ile36=) rs1457769757 0.00001
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=) rs758173419 0.00001
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr) rs370256882 0.00001
NM_005159.5(ACTC1):c.117C>T (p.Arg39=) rs751851323 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.130-3T>C rs745838366 0.00001
NM_005159.5(ACTC1):c.240C>T (p.Asn80=) rs1178754602 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.318G>A (p.Leu106=) rs1335305223 0.00001
NM_005159.5(ACTC1):c.352C>A (p.Arg118=) rs1159252460 0.00001
NM_005159.5(ACTC1):c.369G>A (p.Gln123=) rs768169477 0.00001
NM_005159.5(ACTC1):c.432G>T (p.Leu144=) rs1595761302 0.00001
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069 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.455-9C>T rs1891726942 0.00001
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr) rs1469206760 0.00001
NM_005159.5(ACTC1):c.609C>T (p.Val203=) rs1055408313 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 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.809-9C>T rs752499457 0.00001
NM_005159.5(ACTC1):c.81C>T (p.Asp27=) rs753552901 0.00001
NM_005159.5(ACTC1):c.93T>C (p.Ala31=) rs1341945129 0.00001
NM_005159.5(ACTC1):c.994A>G (p.Ile332Val) rs749354463 0.00001
NM_005159.5(ACTC1):c.*1G>A
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.1005T>C (p.Pro335=) rs1179163467
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.1050T>C (p.Ser350=) rs895745627
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=) rs151321743
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.1128C>T (p.Cys376=) rs1891679853
NM_005159.5(ACTC1):c.121C>A (p.Arg41=)
NM_005159.5(ACTC1):c.129+17del rs730880386
NM_005159.5(ACTC1):c.129+3A>G rs763452221
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.130-13T>A rs1891753477
NM_005159.5(ACTC1):c.130-15T>G rs376417852
NM_005159.5(ACTC1):c.130-5C>T
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.180C>A (p.Ala60=) rs370322510
NM_005159.5(ACTC1):c.18G>A (p.Glu6=) rs1891783715
NM_005159.5(ACTC1):c.204C>T (p.Thr68=) rs1891751214
NM_005159.5(ACTC1):c.234C>T (p.Ile78=) rs1393400015
NM_005159.5(ACTC1):c.258G>A (p.Lys86=)
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys) rs1595761404
NM_005159.5(ACTC1):c.27C>T (p.Ala9=) rs1595762043
NM_005159.5(ACTC1):c.294G>T (p.Val98=) rs397517058
NM_005159.5(ACTC1):c.333G>C (p.Pro111=) rs774767260
NM_005159.5(ACTC1):c.366T>C (p.Thr122=) rs1595761353
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.381G>A (p.Glu127=) rs1405293135
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser) rs1595761325
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val) rs1257864393
NM_005159.5(ACTC1):c.414C>A (p.Ile138=) rs1201685758
NM_005159.5(ACTC1):c.424C>T (p.Leu142=) rs1891744697
NM_005159.5(ACTC1):c.463C>T (p.Leu155=)
NM_005159.5(ACTC1):c.48T>G (p.Ser16=) rs1595762032
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.504T>C (p.Tyr168=) rs2140430970
NM_005159.5(ACTC1):c.516T>G (p.Ala172=)
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val) rs730880392
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.537T>C (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.540G>C (p.Leu180=) rs1891724758
NM_005159.5(ACTC1):c.555G>A (p.Arg185=)
NM_005159.5(ACTC1):c.558C>T (p.Asp186=) rs1891724406
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=) rs1595760934
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe) rs1891723828
NM_005159.5(ACTC1):c.585C>T (p.Leu195=)
NM_005159.5(ACTC1):c.603C>T (p.Ser201=) rs2140430845
NM_005159.5(ACTC1):c.617-12_617-11del rs1891721057
NM_005159.5(ACTC1):c.617-7T>A rs750536667
NM_005159.5(ACTC1):c.631_642del (p.Val211_Ile214del)
NM_005159.5(ACTC1):c.639C>T (p.Asp213=)
NM_005159.5(ACTC1):c.63C>A (p.Ala21=) rs1595762020
NM_005159.5(ACTC1):c.681T>C (p.Asn227=) rs1891719741
NM_005159.5(ACTC1):c.720G>A (p.Lys240=) rs2140430578
NM_005159.5(ACTC1):c.72G>C (p.Ala24=) rs778572289
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.741C>A (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.741C>T (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.75C>T (p.Gly25=) rs144819872
NM_005159.5(ACTC1):c.765G>A (p.Glu255=) rs1891717558
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu) rs730880399
NM_005159.5(ACTC1):c.774C>G (p.Arg258=) rs903582519
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu) rs2140430478
NM_005159.5(ACTC1):c.809-12_809-11del rs1891699165
NM_005159.5(ACTC1):c.809-14_809-11delinsAA
NM_005159.5(ACTC1):c.809-1G>A rs1566967122
NM_005159.5(ACTC1):c.809-4C>T
NM_005159.5(ACTC1):c.809-8G>T rs767180775
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.5(ACTC1):c.839C>G (p.Thr280Ser) rs1566967118
NM_005159.5(ACTC1):c.846T>C (p.Asn282=) rs1566967111
NM_005159.5(ACTC1):c.855G>A (p.Met285Ile)
NM_005159.5(ACTC1):c.891C>T (p.Ala297=) rs1566967102
NM_005159.5(ACTC1):c.894C>T (p.Asn298=) rs863225303
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.975C>T (p.Ser325=) rs939520463
NM_005159.5(ACTC1):c.990+6G>C
NM_005159.5(ACTC1):c.997G>T (p.Ala333Ser) rs267606629
NM_005159.5(ACTC1):c.9C>T (p.Asp3=) rs535623090

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