List of variants studied for combined oxidative phosphorylation deficiency by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)	rs374698153	0.00008
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)	rs200088200	0.00001
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter)	rs866158774
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys)	rs2124577339
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn)	rs1568572298

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