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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004376.7(COX15):c.-84G>A	rs574143521	0.00036
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)	rs149718203	0.00030
NM_078470.6(COX15):c.131G>A (p.Ser44Asn)	rs141506146	0.00011
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.686C>A (p.Ser229Ter)	rs201002908	0.00002
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)	rs778412019	0.00001
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)	rs397514662
NM_078470.6(COX15):c.1039del (p.Ile347fs)	rs766283832
NM_078470.6(COX15):c.319G>T (p.Glu107Ter)
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)
NM_078470.6(COX15):c.717G>A (p.Trp239Ter)	rs886046611
NM_078470.6(COX15):c.750+1G>A	rs2036859860
NM_078470.6(COX15):c.750+1G>T	rs2036859860
NM_078470.6(COX15):c.751-2A>T
NM_078470.6(COX15):c.755del (p.Pro252fs)

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