ClinVar Miner

List of variants studied for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_078470.6(COX15):c.211C>T (p.Arg71Ter) rs751819645 0.00001
NM_078470.6(COX15):c.287G>T (p.Gly96Val) rs771992107
NM_078470.6(COX15):c.839T>C (p.Phe280Ser) rs2492679787

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