List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)	rs146988468	0.00006
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)	rs397514612	0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)	rs397514611	0.00001
NC_000006.11:g.5193615_5281296del
NC_000006.11:g.5262296_5395849del133554
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala)	rs770035560
NM_006567.5(FARS2):c.403C>G (p.His135Asp)	rs1554169353
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly)	rs1561990337
NM_006567.5(FARS2):c.530T>A (p.Val177Asp)	rs1561990552
NM_006567.5(FARS2):c.905-1G>A	rs1298860043
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)	rs746746116
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)	rs764427452

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