List of variants reported as uncertain significance for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005138.3(SCO2):c.-114G>C	rs554814235	0.00137
NM_005138.3(SCO2):c.341G>A (p.Arg114His)	rs145100473	0.00076
NM_005138.3(SCO2):c.237G>A (p.Arg79=)	rs150485659	0.00036
NM_005138.3(SCO2):c.162C>T (p.Gly54=)	rs139545104	0.00010
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)	rs375383752	0.00009
NM_005138.3(SCO2):c.541G>A (p.Val181Ile)	rs147624681	0.00007
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu)	rs765425160	0.00006
NM_005138.3(SCO2):c.-83A>G	rs886057632	0.00005
NM_005138.3(SCO2):c.723C>T (p.Tyr241=)	rs375345044	0.00004
NM_005138.3(SCO2):c.-51C>T	rs886057631	0.00001
NM_005138.3(SCO2):c.4C>G (p.Leu2Val)	rs747642461	0.00001
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)	rs780314255	0.00001
NM_005138.3(SCO2):c.226C>T (p.Leu76=)	rs942543259
NM_005138.3(SCO2):c.276A>G (p.Glu92=)	rs886057630
NM_005138.3(SCO2):c.738G>A (p.Ser246=)	rs200605042
NM_005138.3(SCO2):c.738G>C (p.Ser246=)	rs200605042

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