ClinVar Miner

List of variants in gene OPA3 reported as benign for 3-methylglutaconic aciduria

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_025136.3(OPA3):c.*1294dupA rs74313320
NM_025136.3(OPA3):c.*152G>A rs3826861
NM_025136.3(OPA3):c.*1950G>A rs4404183
NM_025136.3(OPA3):c.*3114_*3116dupAGC rs542311224
NM_025136.3(OPA3):c.*3387G>A rs3760844
NM_025136.3(OPA3):c.*4147_*4151delCCCTG rs68079762
NM_025136.3(OPA3):c.*4318T>C rs4802261
NM_025136.3(OPA3):c.*4720_*4723dupATAA rs58537694
NM_025136.3(OPA3):c.*4850_*4852delAAA rs144752998
NM_025136.3(OPA3):c.*4857A>T rs4803833
NM_025136.3(OPA3):c.*5523G>A rs57585727
NM_025136.3(OPA3):c.*6012A>G rs11083772
NM_025136.3(OPA3):c.*6790T>C rs10422253
NM_025136.3(OPA3):c.*986delA rs377547137
NM_025136.3(OPA3):c.231T>C (p.Ala77=) rs3826860

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