ClinVar Miner

List of variants studied for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.303G>C (p.Gln101His) rs141551295 0.00014
NM_005138.3(SCO2):c.764G>T (p.Arg255Leu) rs368908383

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