List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Natera, Inc.

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	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.1297_1300del (p.Asp433fs)	rs866604517
NM_024996.7(GFM1):c.1765-2_1765-1del	rs1245712932
NM_024996.7(GFM1):c.3G>A (p.Met1Ile)	rs863224030

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