ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as benign for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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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.*472T>C rs1370155 0.12694
NM_005159.5(ACTC1):c.-57T>C rs113178069 0.10580
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_005159.4(ACTC1):c.*269C>T rs74009720 0.01739
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005159.4(ACTC1):c.*388G>A rs1370154
NM_005159.4(ACTC1):c.*875G>C rs73387693
NM_005159.5(ACTC1):c.129+17del rs730880386
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869

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