ClinVar Miner

List of variants reported as pathogenic for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)	rs74315511	0.00011
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp)	rs753779965	0.00002

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