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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00013
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)	rs778120270	0.00002
NM_005726.6(TSFM):c.748G>T (p.Glu250Ter)	rs1955738689
NM_017909.4(RMND1):c.504+1G>A	rs1562800908
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)	rs397515465
NM_024996.7(GFM1):c.1510del (p.Tyr504fs)	rs1560135485
NM_032620.4(GTPBP3):c.664+23_664+26del	rs765975578
NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter)	rs2133612740

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