ClinVar Miner

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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)
NM_130837.3(OPA1):c.1935+1G>C	rs1711518217
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)

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