ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_005159.4(ACTC1):c.*1039G>A rs589759 0.70946
NM_005159.4(ACTC1):c.*1682A>G rs533021 0.55143
NM_005159.4(ACTC1):c.*2090A>G rs604689 0.46654
NM_005159.4(ACTC1):c.*1445C>G rs8037241 0.20984
NM_005159.4(ACTC1):c.*918delA rs34323254 0.13239
NM_005159.4(ACTC1):c.*472T>C rs1370155 0.12694
NM_005159.5(ACTC1):c.-57T>C rs113178069 0.10580
NM_005159.4(ACTC1):c.*1674C>T rs112660730 0.04304
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_005159.4(ACTC1):c.*868T>G rs80139141 0.01974
NM_005159.4(ACTC1):c.*269C>T rs74009720 0.01739
NM_005159.4(ACTC1):c.*781G>A rs145085048 0.01199
NM_005159.4(ACTC1):c.*846G>A rs78596978 0.00833
NM_005159.4(ACTC1):c.*856G>A rs79104010 0.00827
NM_005159.5(ACTC1):c.-50G>A rs139691739 0.00724
NM_005159.4(ACTC1):c.*1004A>G rs116034611 0.00698
NM_005159.4(ACTC1):c.*688T>G rs116184851 0.00680
NM_005159.4(ACTC1):c.*518A>G rs115295911 0.00500
NM_005159.4(ACTC1):c.*757G>A rs78727649 0.00452
NM_005159.5(ACTC1):c.*22C>T rs28730667 0.00412
NM_005159.4(ACTC1):c.*1219C>T rs139559367 0.00297
NM_005159.4(ACTC1):c.*1513T>C rs113063427 0.00287
NM_005159.5(ACTC1):c.-23+15G>T rs566201991 0.00242
NM_005159.4(ACTC1):c.*1893C>T rs185151197 0.00182
NM_005159.4(ACTC1):c.*1919G>A rs557782296 0.00095
NM_005159.4(ACTC1):c.*742C>G rs746732857 0.00056
NM_005159.4(ACTC1):c.*1303C>G rs764944789 0.00050
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_005159.4(ACTC1):c.*983C>T rs549986676 0.00035
NM_005159.4(ACTC1):c.*1800C>T rs981648501 0.00028
NM_005159.4(ACTC1):c.*484C>T rs563713498 0.00024
NM_005159.5(ACTC1):c.*40G>A rs377546862 0.00022
NM_005159.4(ACTC1):c.-228C>A rs370499568 0.00021
NM_005159.4(ACTC1):c.*1471G>A rs886051067 0.00019
NM_005159.4(ACTC1):c.*737C>T rs868013105 0.00017
NM_005159.4(ACTC1):c.*2275C>T rs140004011 0.00013
NM_005159.4(ACTC1):c.*1749C>T rs920001464 0.00011
NM_005159.4(ACTC1):c.*1133G>T rs750686235 0.00008
NM_005159.4(ACTC1):c.*1802C>T rs563318028 0.00005
NM_005159.4(ACTC1):c.*1318T>G rs759530643 0.00004
NM_005159.4(ACTC1):c.*1810C>T rs957061913 0.00004
NM_005159.5(ACTC1):c.*39C>T rs3729758 0.00004
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_005159.4(ACTC1):c.*1987G>A rs886051062 0.00003
NM_005159.4(ACTC1):c.*756C>T rs887032485 0.00003
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005159.4(ACTC1):c.*584T>G rs999688273 0.00002
NM_005159.4(ACTC1):c.*927G>A rs934568426 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_005159.4(ACTC1):c.*1090A>G rs886051070 0.00001
NM_005159.4(ACTC1):c.*2188T>C rs966275735 0.00001
NM_005159.4(ACTC1):c.*2206C>G rs886051060 0.00001
NM_005159.4(ACTC1):c.*2261A>G rs1482705391 0.00001
NM_005159.4(ACTC1):c.*590A>G rs942901934 0.00001
NM_005159.4(ACTC1):c.*679C>G rs886051078 0.00001
NM_005159.4(ACTC1):c.*865T>C rs886051073 0.00001
NM_005159.4(ACTC1):c.-109C>A rs886051097 0.00001
NM_005159.4(ACTC1):c.-192A>G rs1713628654 0.00001
NM_005159.5(ACTC1):c.*20T>A rs143407466 0.00001
NM_005159.4(ACTC1):c.*1062G>A rs886051072
NM_005159.4(ACTC1):c.*1070A>C rs886051071
NM_005159.4(ACTC1):c.*1115A>T rs886051069
NM_005159.4(ACTC1):c.*1221A>T rs886051068
NM_005159.4(ACTC1):c.*1230C>T rs1891645041
NM_005159.4(ACTC1):c.*1262G>C rs189725849
NM_005159.4(ACTC1):c.*1378C>T rs1891640803
NM_005159.4(ACTC1):c.*1482G>T rs886051066
NM_005159.4(ACTC1):c.*1502G>T rs886051065
NM_005159.4(ACTC1):c.*1624G>T rs1891635659
NM_005159.4(ACTC1):c.*1732G>C rs750495564
NM_005159.4(ACTC1):c.*1753G>T rs886051064
NM_005159.4(ACTC1):c.*1774G>A rs756269270
NM_005159.4(ACTC1):c.*1797C>A rs886051063
NM_005159.4(ACTC1):c.*2053G>T rs79955486
NM_005159.4(ACTC1):c.*214G>A rs540240407
NM_005159.4(ACTC1):c.*2168G>T rs886051061
NM_005159.4(ACTC1):c.*2179T>C rs1595758879
NM_005159.4(ACTC1):c.*224G>C rs551820554
NM_005159.4(ACTC1):c.*2292C>T rs886051059
NM_005159.4(ACTC1):c.*247G>A rs886051088
NM_005159.4(ACTC1):c.*284G>A rs886051087
NM_005159.4(ACTC1):c.*307T>A rs886051086
NM_005159.4(ACTC1):c.*388G>A rs1370154
NM_005159.4(ACTC1):c.*388G>C rs1370154
NM_005159.4(ACTC1):c.*393G>T rs886051085
NM_005159.4(ACTC1):c.*422T>A rs886051084
NM_005159.4(ACTC1):c.*561C>A rs886051083
NM_005159.4(ACTC1):c.*619A>T rs886051082
NM_005159.4(ACTC1):c.*643C>A rs886051081
NM_005159.4(ACTC1):c.*646C>A rs886051080
NM_005159.4(ACTC1):c.*674C>A rs886051079
NM_005159.4(ACTC1):c.*708G>T rs886051077
NM_005159.4(ACTC1):c.*739G>T rs886051076
NM_005159.4(ACTC1):c.*752C>A rs969975000
NM_005159.4(ACTC1):c.*775C>A rs886051075
NM_005159.4(ACTC1):c.*777C>T rs886051074
NM_005159.4(ACTC1):c.*875G>C rs73387693
NM_005159.4(ACTC1):c.*935G>T rs766542832
NM_005159.4(ACTC1):c.-101G>T rs886051095
NM_005159.4(ACTC1):c.-105C>A rs886051096
NM_005159.4(ACTC1):c.-175C>A rs886051098
NM_005159.4(ACTC1):c.-194C>A rs886051099
NM_005159.4(ACTC1):c.-79G>A rs886051094
NM_005159.5(ACTC1):c.*137A>T rs149031785
NM_005159.5(ACTC1):c.*35A>T rs748053539
NM_005159.5(ACTC1):c.-55C>A rs886051093
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.809-12A>G rs587780846
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.978C>A (p.Thr326=) rs886051089

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