List of variants reported as pathogenic for hereditary optic atrophy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-ND4):m.11778G>A	rs199476112
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	rs80356525
NM_130837.3(OPA1):c.1053T>A (p.Asp351Glu)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)	rs398124303
NM_130837.3(OPA1):c.1525C>T (p.Gln509Ter)
NM_130837.3(OPA1):c.1681+1G>T	rs886041318
NM_130837.3(OPA1):c.1945_1948del (p.Phe649fs)
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)	rs761743852

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