ClinVar Miner

List of variants reported as uncertain significance for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005138.3(SCO2):c.202G>A (p.Gly68Arg)	rs1007416904
NM_005138.3(SCO2):c.533C>T (p.Ala178Val)	rs747348613
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)	rs112793292

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