ClinVar Miner

List of variants in gene COX6B1 studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 7
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HGVS dbSNP
NM_001863.5(COX6B1):c.-133A>G rs577036606
NM_001863.5(COX6B1):c.-145G>A rs10420252
NM_001863.5(COX6B1):c.-47A>G rs886054343
NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser) rs111638609
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) rs778740017
NM_001863.5(COX6B1):c.59G>A (p.Arg20His) rs121909602

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