ClinVar Miner

List of variants reported as likely pathogenic for Coenzyme Q10 deficiency, primary 1

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Total variants: 3
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HGVS dbSNP
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015697.8(COQ2):c.854C>G (p.Pro285Arg) rs1161445886
NM_020247.4(COQ8A):c.*72dup rs1558212305

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