List of variants reported as pathogenic for optic atrophy by Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1036C>T (p.Leu346Phe)	rs755893615	0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	rs912546325	0.00001
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)	rs1057522195
NM_006796.3(AFG3L2):c.1130T>C (p.Phe377Ser)	rs1908507433
NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)	rs1908371616
NM_006796.3(AFG3L2):c.1289C>T (p.Thr430Ile)	rs1908369114
NM_006796.3(AFG3L2):c.1394G>A (p.Arg465Lys)	rs1908309088
NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu)	rs1908300748
NM_006796.3(AFG3L2):c.[1385C>T;1858C>A]
NM_006796.3(AFG3L2):c.[1814A>G;2375dup]
NM_006796.3(AFG3L2):c.[1901_1902del;916A>G]

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