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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)	rs200286768	0.00011
NM_213649.2(SFXN4):c.233del (p.Pro78fs)	rs398124642
NM_213649.2(SFXN4):c.471+1G>A	rs367932369

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