List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NC_000006.11:g.(?_5172693)_(5459957_?)del
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)	rs755184077

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