List of variants studied for combined oxidative phosphorylation deficiency by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005035.4(POLRMT):c.881C>T (p.Pro294Leu)	rs566027653	0.00008
NM_005035.4(POLRMT):c.1855G>A (p.Gly619Ser)	rs764240322	0.00002
NM_001379210.1(SLC25A26):c.554G>A (p.Cys185Tyr)
NM_001379210.1(SLC25A26):c.719G>T (p.Gly240Val)
NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del)	rs2124651780
NM_153689.6(C2orf69):c.298del (p.Gln100fs)	rs2077262520

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