ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NC_000001.11:g.226965720G>A
NC_000001.11:g.226985306_226985307del
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613
NM_020247.5(COQ8A):c.1007del (p.Phe336fs) rs1085307053
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430

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