ClinVar Miner

List of variants in gene OPA3 reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu) rs201888844
NM_001017989.3(OPA3):c.534C>T (p.Ser178=) rs1162879805
NM_025136.4(OPA3):c.*1340C>T rs12104391
NM_025136.4(OPA3):c.*1760C>T rs75401979
NM_025136.4(OPA3):c.*1855T>C rs146599259
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
NM_025136.4(OPA3):c.*2469G>A rs115566341
NM_025136.4(OPA3):c.*2696C>G rs148705681
NM_025136.4(OPA3):c.*3222C>T rs73568980
NM_025136.4(OPA3):c.*3343_*3347TCTTT[2] rs373580645
NM_025136.4(OPA3):c.*362T>C rs73942919
NM_025136.4(OPA3):c.*4794C>T rs114917731
NM_025136.4(OPA3):c.*5905G>A rs116705343
NM_025136.4(OPA3):c.*6104_*6105del rs142661638
NM_025136.4(OPA3):c.*6294A>C rs114655581
NM_025136.4(OPA3):c.*6394G>A rs151030695
NM_025136.4(OPA3):c.*7085A>G rs67373144
NM_025136.4(OPA3):c.-38A>G rs45527139
NM_025136.4(OPA3):c.120T>C (p.Tyr40=) rs752657560
NM_025136.4(OPA3):c.142+10A>C
NM_025136.4(OPA3):c.143-5C>T
NM_025136.4(OPA3):c.143-6C>T
NM_025136.4(OPA3):c.143-7C>T
NM_025136.4(OPA3):c.213G>A (p.Leu71=) rs1258779986
NM_025136.4(OPA3):c.216C>T (p.Asn72=) rs772750356
NM_025136.4(OPA3):c.222G>A (p.Glu74=)
NM_025136.4(OPA3):c.237G>C (p.Leu79=) rs943536843
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583
NM_025136.4(OPA3):c.252G>A (p.Leu84=) rs757297634
NM_025136.4(OPA3):c.273C>T (p.Ile91=) rs369545089
NM_025136.4(OPA3):c.289C>T (p.Leu97=)
NM_025136.4(OPA3):c.291A>G (p.Leu97=)
NM_025136.4(OPA3):c.336G>A (p.Glu112=) rs146349367
NM_025136.4(OPA3):c.33G>A (p.Leu11=)
NM_025136.4(OPA3):c.33G>T (p.Leu11=) rs148805518
NM_025136.4(OPA3):c.354C>T (p.Ala118=)
NM_025136.4(OPA3):c.363G>T (p.Ala121=)
NM_025136.4(OPA3):c.367C>A (p.Arg123=) rs1022155897
NM_025136.4(OPA3):c.381C>T (p.Gly127=)
NM_025136.4(OPA3):c.397C>T (p.Leu133=)
NM_025136.4(OPA3):c.39C>T (p.Tyr13=) rs374843726
NM_025136.4(OPA3):c.405G>A (p.Ala135=) rs750848548
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.414G>A (p.Ala138=)
NM_025136.4(OPA3):c.429G>A (p.Ala143=) rs745373208
NM_025136.4(OPA3):c.444C>G (p.Ala148=)
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.474G>A (p.Glu158=)
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109
NM_025136.4(OPA3):c.483C>G (p.Ala161=)
NM_025136.4(OPA3):c.522G>A (p.Val174=)
NM_025136.4(OPA3):c.528G>A (p.Ala176=)
NM_025136.4(OPA3):c.540G>A (p.Ter180=)
NM_025136.4(OPA3):c.57C>T (p.Val19=) rs1600010212
NM_025136.4(OPA3):c.66G>T (p.Pro22=)
NM_025136.4(OPA3):c.78T>C (p.Arg26=)
NM_025136.4(OPA3):c.87G>A (p.Glu29=)

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