ClinVar Miner

List of variants in gene COQ2 reported as pathogenic for Coenzyme Q10 deficiency, primary 1

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Total variants: 5
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HGVS dbSNP
NM_015697.8(COQ2):c.1197del (p.Asn401fs) rs750710187
NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) rs121918233
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) rs121918232
NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) rs121918230

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