ClinVar Miner

List of variants reported as likely pathogenic for Coenzyme Q10 deficiency, primary, 7

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Total variants: 5
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HGVS dbSNP
NM_016035.5(COQ4):c.300-2A>G
NM_016035.5(COQ4):c.402+1G>A
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.70+2C>G rs767839639
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644

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