ClinVar Miner

List of variants in gene COA3 reported as pathogenic for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 2
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NM_001040431.2(COA3):c.199dupC (p.Leu67Profs) rs757472611
NM_001040431.2(COA3):c.215A>G (p.Tyr72Cys) rs139877390

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