ClinVar Miner

List of variants in gene LOC126806913, OPA1 studied for Autosomal dominant optic atrophy classic form

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1839G>A (p.Glu613=) rs1734784679
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)
NM_130837.3(OPA1):c.1870+1G>C

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