List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00042
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)	rs146503501	0.00028
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)	rs1382181446	0.00004
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)	rs760208518	0.00002
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)	rs767519084	0.00001
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly)	rs2102494691
NM_025150.5(TARS2):c.1678G>C (p.Asp560His)	rs2102510285

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