ClinVar Miner

List of variants in gene combination NCAPH2, SCO2 reported as uncertain significance for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 8
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HGVS dbSNP
NM_152299.4(NCAPH2):c.*1033G>C rs747642461
NM_152299.4(NCAPH2):c.*274G>T rs112793292
NM_152299.4(NCAPH2):c.*299C>G rs200605042
NM_152299.4(NCAPH2):c.*761T>C rs886057630
NM_152299.4(NCAPH2):c.*793T>C rs765425160
NM_152299.4(NCAPH2):c.*800C>T rs150485659
NM_152299.4(NCAPH2):c.*836G>A rs61748568
NM_152299.4(NCAPH2):c.*875G>A rs139545104

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