ClinVar Miner

List of variants studied for Autosomal dominant optic atrophy classic form by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val) rs387906899
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.2524G>A (p.Val842Ile)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852

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