ClinVar Miner

List of variants in gene OPA1 reported as likely pathogenic for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1149+1G>T
NM_130837.3(OPA1):c.1309dup (p.Ile437fs)
NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)

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