ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 61
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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.455-48G>C rs78697034 0.00832
NM_005159.5(ACTC1):c.-50G>A rs139691739 0.00724
NM_005159.5(ACTC1):c.*22C>T rs28730667 0.00412
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_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005159.4(ACTC1):c.-228C>A rs370499568 0.00021
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00014
NM_005159.5(ACTC1):c.84G>T (p.Ala28=) rs1008290796 0.00010
NC_000015.10:g.34790111C>T rs901415027 0.00003
NM_005159.5(ACTC1):c.*116G>A rs553652706 0.00003
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005159.5(ACTC1):c.809-14T>A rs1157097825 0.00003
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.318G>A (p.Leu106=) rs1335305223 0.00001
NC_000015.10:g.34790188C>T rs551820554
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_005159.5(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.1050T>A (p.Ser350=) rs895745627
NM_005159.5(ACTC1):c.1068A>G (p.Gln356=) rs2140428994
NM_005159.5(ACTC1):c.129+17del rs730880386
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.129+23del rs148433308
NM_005159.5(ACTC1):c.129+8T>C rs2140433148
NM_005159.5(ACTC1):c.537T>C (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.808+76G>C rs3729755
NM_005159.5(ACTC1):c.809-12A>G rs587780846
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[21] 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

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