List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Baylor Genetics

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00071
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	rs201431517	0.00058
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_023936.2(MRPS34):c.322-10G>A	rs563189672	0.00015
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_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	0.00004
NM_020442.6(VARS2):c.2038-1G>A	rs769768815	0.00004
NM_024996.7(GFM1):c.720del (p.Glu241fs)	rs745718158	0.00004
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)	rs119470019	0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	rs1004779078	0.00002
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)	rs780762234	0.00002
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs)	rs767857970	0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	rs766234016	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	rs724160020
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	rs184469579
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	rs115079861
NM_018127.7(ELAC2):c.457del (p.Ile153fs)	rs1567773277
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs)	rs775852045
NM_020745.4(AARS2):c.647dup (p.Cys218fs)	rs587777589
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	rs757691557
NM_024996.7(GFM1):c.1404del (p.Gly469fs)	rs779877297
NM_024996.7(GFM1):c.1765-2_1765-1del	rs1245712932
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	rs62286651
NM_024996.7(GFM1):c.539del (p.Gly180fs)	rs1362847020
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
NM_024996.7(GFM1):c.914del (p.Gly305fs)
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs)	rs757731660
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	rs397514614
NM_213649.2(SFXN4):c.930del (p.Ile310fs)	rs1589625048

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