ClinVar Miner

List of variants reported as likely pathogenic for Coenzyme Q10 deficiency, primary, 4

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Total variants: 12
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NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613
NM_020247.5(COQ8A):c.1007del (p.Phe336fs) rs1085307053
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro)
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430

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