ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance for Optic Atrophy, Dominant

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Total variants: 29
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HGVS dbSNP
NM_015560.2(OPA1):c.*1815T>C rs570796106
NM_015560.2(OPA1):c.*1919T>A rs867799524
NM_015560.2(OPA1):c.*2156A>G rs886058258
NM_015560.2(OPA1):c.*2241A>G rs778074372
NM_015560.2(OPA1):c.*2283A>G rs886058259
NM_015560.2(OPA1):c.*2416C>T rs539683627
NM_015560.2(OPA1):c.*2605_*2607delGGA rs886058260
NM_015560.2(OPA1):c.*260G>T rs886058256
NM_015560.2(OPA1):c.*2692G>A rs886058261
NM_015560.2(OPA1):c.*2694T>A rs886058262
NM_015560.2(OPA1):c.*2909A>T rs886058263
NM_015560.2(OPA1):c.*3147G>C rs886058264
NM_015560.2(OPA1):c.*322G>A rs886058257
NM_015560.2(OPA1):c.*56C>T rs564487151
NM_015560.2(OPA1):c.*622C>T rs750359704
NM_015560.2(OPA1):c.-102G>A rs886058255
NM_015560.2(OPA1):c.-8C>T rs371988066
NM_015560.2(OPA1):c.1137T>G (p.Pro379=) rs139861334
NM_015560.2(OPA1):c.1572G>C (p.Gln524His) rs538099724
NM_015560.2(OPA1):c.2166+10T>C rs371096629
NM_015560.2(OPA1):c.2276-4dup rs761286590
NM_015560.2(OPA1):c.254G>A (p.Arg85His) rs35630194
NM_015560.2(OPA1):c.339C>T (p.Tyr113=) rs779836454
NM_015560.2(OPA1):c.530G>T (p.Ser177Ile) rs150279202
NM_015560.2(OPA1):c.544T>C (p.Phe182Leu) rs769335936
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438
NM_015560.2(OPA1):c.825C>T (p.Leu275=) rs201242590
NM_015560.2(OPA1):c.852G>A (p.Thr284=) rs758922394

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