List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Revvity Omics, Revvity

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00071
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)	rs144042123	0.00052
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_024996.7(GFM1):c.997_998+2del	rs763084523	0.00004
NM_018127.7(ELAC2):c.245+2T>A	rs748684065	0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	rs766234016	0.00001
NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter)
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)	rs763423294
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu)	rs587777593

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