ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as likely benign for Dilated cardiomyopathy 1R

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Total variants: 17
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HGVS dbSNP gnomAD frequency
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.*1513T>C rs113063427 0.00287
NM_005159.4(ACTC1):c.*2053G>T rs79955486
NM_005159.4(ACTC1):c.*875G>C rs73387693
NM_005159.5(ACTC1):c.*137A>T rs149031785

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