ClinVar Miner

List of variants studied for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_078470.6(COX15):c.1015G>A (p.Val339Met) rs141830307 0.00006
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001

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