List of variants reported as pathogenic for Autosomal dominant optic atrophy classic form by MGZ Medical Genetics Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)	rs761460379
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	rs794727804

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