ClinVar Miner

List of variants in gene OPA1 studied for Autosomal dominant optic atrophy plus syndrome

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Total variants: 12
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HGVS dbSNP
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.1346del (p.Thr449fs) rs794729196
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_015560.2(OPA1):c.344C>T (p.Ala115Val) rs200983556
NM_015560.2(OPA1):c.556+1G>A
NM_130837.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140

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