ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT studied for not provided

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.454+245G>A rs2070664 0.62309
NM_005159.4(ACTC1):c.*1682A>G rs533021 0.55143
NM_005159.5(ACTC1):c.809-304G>A rs62006139 0.17260
NM_005159.5(ACTC1):c.130-127G>C rs7165006 0.12411
NM_005159.5(ACTC1):c.129+319T>G rs77247635 0.11673
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.129+118G>A rs78848103 0.03440
NM_005159.5(ACTC1):c.-22-212A>T rs115016806 0.02956
NM_005159.5(ACTC1):c.808+169G>A rs3729756 0.02843
NM_005159.5(ACTC1):c.809-67G>A rs115415793 0.02561
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_005159.5(ACTC1):c.455-243A>T rs76891510 0.02432
NM_005159.5(ACTC1):c.990+236C>T rs73387696 0.02244
NM_005159.5(ACTC1):c.808+185A>G rs3729757 0.01841
NM_005159.4(ACTC1):c.*269C>T rs74009720 0.01739
NM_005159.5(ACTC1):c.-22-312G>T rs80085137 0.01679
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.455-48G>C rs78697034 0.00832
NM_005159.5(ACTC1):c.990+64C>T rs2307494 0.00741
NM_005159.5(ACTC1):c.-50G>A rs139691739 0.00724
NM_005159.5(ACTC1):c.129+219_129+224del rs527292617 0.00502
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_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005159.5(ACTC1):c.-23+15G>T rs566201991 0.00242
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_005159.4(ACTC1):c.-228C>A rs370499568 0.00021
NM_005159.4(ACTC1):c.*737C>T rs868013105 0.00017
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00014
NM_005159.5(ACTC1):c.84G>T (p.Ala28=) rs1008290796 0.00010
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.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.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840 0.00004
NC_000015.10:g.34790111C>T rs901415027 0.00003
NM_005159.5(ACTC1):c.*116G>A rs553652706 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.809-14T>A rs1157097825 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005159.5(ACTC1):c.809-8G>A rs767180775 0.00002
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 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.311C>T (p.Pro104Leu) rs1405829098 0.00001
NM_005159.5(ACTC1):c.318G>A (p.Leu106=) rs1335305223 0.00001
NM_005159.5(ACTC1):c.369G>A (p.Gln123=) rs768169477 0.00001
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402 0.00001
NM_005159.5(ACTC1):c.93T>C (p.Ala31=) rs1341945129 0.00001
NC_000015.10:g.34790188C>T rs551820554
NM_005159.4(ACTC1):c.*1262G>C rs189725849
NM_005159.4(ACTC1):c.*1732G>C rs750495564
NM_005159.4(ACTC1):c.*214G>A rs540240407
NM_005159.4(ACTC1):c.*388G>A rs1370154
NM_005159.4(ACTC1):c.*393G>T rs886051085
NM_005159.4(ACTC1):c.*922G>T
NM_005159.5(ACTC1):c.*137A>T rs149031785
NM_005159.5(ACTC1):c.-23+138_-23+139dup rs3059225
NM_005159.5(ACTC1):c.-23+138dup rs3059225
NM_005159.5(ACTC1):c.-23+154del rs3059225
NM_005159.5(ACTC1):c.-38A>C rs1891811169
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.1021G>C (p.Val341Leu) rs2140429056
NM_005159.5(ACTC1):c.1050T>A (p.Ser350=) rs895745627
NM_005159.5(ACTC1):c.1068A>G (p.Gln356=) rs2140428994
NM_005159.5(ACTC1):c.1083G>T (p.Lys361Asn) rs754736799
NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn) rs1555418631
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn) rs2140428952
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.10G>C (p.Asp4His) rs730880408
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg) rs869025355
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.129+23del rs148433308
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.129+8T>C rs2140433148
NM_005159.5(ACTC1):c.158A>T (p.Asp53Val) rs1555418919
NM_005159.5(ACTC1):c.161C>T (p.Ser54Phe) rs730880391
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) rs794727502
NM_005159.5(ACTC1):c.214C>T (p.Pro72Ser) rs2140432138
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.275_277del (p.Phe92del) rs730880388
NM_005159.5(ACTC1):c.299C>T (p.Pro100Leu) rs876661195
NM_005159.5(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.328G>A (p.Ala110Thr) rs1057523500
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg) rs2140431879
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr) rs1595761344
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) rs1566967697
NM_005159.5(ACTC1):c.401T>C (p.Met134Thr) rs2140431788
NM_005159.5(ACTC1):c.431T>G (p.Leu144Arg) rs1057524277
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser) rs267606628
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.521C>T (p.Pro174Leu) rs2140430949
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.524A>C (p.His175Pro) rs1566967487
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.541G>C (p.Asp181His) rs730880393
NM_005159.5(ACTC1):c.551_556del (p.Gly184_Arg185del) rs2140430900
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile) rs730880394
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn) rs730880395
NM_005159.5(ACTC1):c.590A>G (p.Glu197Gly)
NM_005159.5(ACTC1):c.601T>C (p.Ser201Pro) rs2140430853
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) rs730880038
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.622C>A (p.Arg208Ser)
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.635G>C (p.Arg212Pro) rs397517067
NM_005159.5(ACTC1):c.656G>A (p.Cys219Tyr) rs2140430672
NM_005159.5(ACTC1):c.658T>C (p.Tyr220His) rs1595760821
NM_005159.5(ACTC1):c.659A>G (p.Tyr220Cys)
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.664G>T (p.Ala222Ser) rs1555418793
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile) rs1595760799
NM_005159.5(ACTC1):c.694G>A (p.Ala232Thr) rs1131691829
NM_005159.5(ACTC1):c.695C>T (p.Ala232Val) rs730880396
NM_005159.5(ACTC1):c.69T>A (p.Phe23Leu) rs1555419008
NM_005159.5(ACTC1):c.700T>C (p.Ser234Pro) rs730880397
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln) rs1555418785
NM_005159.5(ACTC1):c.715G>T (p.Glu239Ter) rs1555418785
NM_005159.5(ACTC1):c.730C>A (p.Leu244Met) rs2140430556
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) rs730880398
NM_005159.5(ACTC1):c.75C>G (p.Gly25=) rs144819872
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu) rs730880399
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.808+1G>C rs730880400
NM_005159.5(ACTC1):c.808+76G>C rs3729755
NM_005159.5(ACTC1):c.809-58TG[14] rs59431308
NM_005159.5(ACTC1):c.809-58TG[15] rs59431308
NM_005159.5(ACTC1):c.809-58TG[16] 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.811A>G (p.Met271Val) rs2140429730
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.5(ACTC1):c.81C>A (p.Asp27Glu)
NM_005159.5(ACTC1):c.821C>T (p.Ala274Val) rs538052265
NM_005159.5(ACTC1):c.830A>G (p.His277Arg)
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.847A>C (p.Ser283Arg)
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
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.932T>A (p.Ile311Asn) rs2140429575
NM_005159.5(ACTC1):c.940C>T (p.Arg314Cys)
NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys) rs730880403
NM_005159.5(ACTC1):c.954A>C (p.Glu318Asp) rs1057520547
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser) rs771011464
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005159.5(ACTC1):c.975C>T (p.Ser325=) rs939520463
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr) rs730880410
NM_005159.5(ACTC1):c.990+6G>A rs749154513
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) rs730880406

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