List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by SIB Swiss Institute of Bioinformatics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)	rs566435653	0.00005
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)	rs199622789	0.00004
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)	rs1060505019	0.00001
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)	rs367752391
NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp)	rs2135213081
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys)	rs2135124873

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