ClinVar Miner

List of variants in gene COQ2, LOC112997540 studied for Coenzyme Q10 deficiency, primary 1

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Total variants: 3
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HGVS dbSNP
NM_015697.8(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) rs112033303

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