ClinVar Miner

List of variants reported as pathogenic for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.556+1G>A rs1577162868

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