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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)	rs119478059	0.00012
NM_020442.6(VARS2):c.2467-2A>G	rs200075594	0.00011
NM_001136193.2(FASTKD2):c.882-1G>A	rs767682048	0.00010
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)	rs201727231	0.00009
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)	rs748152539	0.00004
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys)	rs1459252796	0.00002
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter)	rs751316870	0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)	rs1491203033	0.00001
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter)	rs397514613	0.00001
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)	rs769890347
NM_024996.7(GFM1):c.273del (p.Met92fs)	rs863224033
NM_024996.7(GFM1):c.690_693del	rs778902849

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