List of variants studied for combined oxidative phosphorylation deficiency by Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
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_024996.7(GFM1):c.100C>T (p.Arg34Ter)	rs766234016	0.00001
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)	rs762576741	0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)	rs1390685552	0.00001
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)	rs781397040	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
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)	rs1576745248
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)	rs866604517
NM_024996.7(GFM1):c.1404del (p.Gly469fs)	rs779877297
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)	rs1576757241
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)	rs143031224
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)	rs1576721522

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