ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant optic atrophy classic form by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)	rs1560377736
NM_130837.3(OPA1):c.2779-9A>G	rs1716524583
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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