ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant optic atrophy classic form by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)	rs1577228080
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)	rs1577243012
NM_130837.3(OPA1):c.2983+6T>A	rs1577335678

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