ClinVar Miner

List of variants in gene LOC112529895, SCO1 studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 5
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HGVS dbSNP
NM_004589.3(SCO1):c.-49C>T rs778522503
NM_004589.3(SCO1):c.-52delA rs566330071
NM_004589.3(SCO1):c.-71G>T rs2520169
NM_004589.3(SCO1):c.15C>T (p.Val5=) rs780334801
NM_004589.3(SCO1):c.16C>G (p.Leu6Val) rs61753148

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