ClinVar Miner

List of variants in gene OPA3 reported as uncertain significance for Optic Atrophy, Dominant

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001017989.3(OPA3):c.143-16812G>A rs192699227 0.00300
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506 0.00085
NM_025136.4(OPA3):c.*4919_*4921del rs886054514 0.00001
NM_025136.4(OPA3):c.*324GT[1] rs571672143
NM_025136.4(OPA3):c.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*4696ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*50_*52del rs886054541
NM_025136.4(OPA3):c.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*986dup rs377547137

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