List of variants reported as pathogenic for combined oxidative phosphorylation defect type 14 by Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006567.5(FARS2):c.989G>A (p.Arg330His)	rs863223957	0.00005
NM_006567.5(FARS2):c.1256G>A (p.Arg419His)	rs202183509	0.00001
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe)	rs1204079767
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)	rs1561847309
NM_006567.5(FARS2):c.251A>C (p.His84Pro)	rs1758844499

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