List of variants reported as uncertain significance for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005138.3(SCO2):c.713C>T (p.Thr238Met)	rs149439760	0.00034
NM_005138.3(SCO2):c.378G>A (p.Met126Ile)	rs150880212	0.00026
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala)	rs147185850	0.00020
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys)	rs201174948	0.00010
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu)	rs765425160	0.00006
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys)	rs748770403	0.00002
NM_005138.3(SCO2):c.244_246del (p.Lys82del)	rs757005556
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln)	rs753614511
NM_005138.3(SCO2):c.652dup (p.Gln218fs)	rs2148670938
NM_005138.3(SCO2):c.724G>C (p.Gly242Arg)	rs200610534
NM_005138.3(SCO2):c.766C>G (p.Arg256Gly)

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