ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance for Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

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Total variants: 1
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NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596

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