List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	rs201751992	0.00005
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His)	rs370150532	0.00004
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)	rs752742151	0.00001
NM_017646.6(TRIT1):c.865C>T (p.His289Tyr)
NM_139242.4(MTFMT):c.368T>C (p.Val123Ala)

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