ClinVar Miner

List of variants studied for cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 by OMIM

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) rs28939711 0.00004
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662

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