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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	rs201431517	0.00058
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	rs376103091	0.00020
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)	rs863223926	0.00006
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	rs143747297	0.00003
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)	rs397515421	0.00002
NM_017909.4(RMND1):c.485del (p.Pro162fs)	rs759477396

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