ClinVar Miner

List of variants reported as benign for 3-methylglutaconic aciduria type 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11413
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_025136.4(OPA3):c.*3531G>T rs112899014 0.05413
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_001017989.3(OPA3):c.486C>T (p.His162=) rs201078416 0.00022
NM_025136.4(OPA3):c.*1294dup rs74313320
NM_025136.4(OPA3):c.*3111AGC[3] rs542311224
NM_025136.4(OPA3):c.*4132CCCTG[3] rs68079762
NM_025136.4(OPA3):c.*4696ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*986del rs377547137
NM_025136.4(OPA3):c.143-5dup

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