ClinVar Miner

List of variants studied for Autosomal dominant optic atrophy classic form by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.2661+1G>C
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) rs2109253558
NM_130837.3(OPA1):c.2806del (p.Trp936fs)

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