ClinVar Miner

List of variants in gene OPA1 reported as pathogenic for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

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Total variants: 9
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NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) rs387906899
NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) rs387906900
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1652G>A (p.Cys551Tyr) rs879255592
NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) rs121908376
NM_015560.2(OPA1):c.2729T>A (p.Val910Asp) rs387906901
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) rs879255513
NM_130836.3(OPA1):c.556+1G>A rs1577162868

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