ClinVar Miner

List of variants reported as benign for 3-Methylglutaconic aciduria type 3 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
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 0.66267
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.58619
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 0.13761
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11420
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11233
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08485
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06293
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06140
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 0.04790
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.*3972C>T rs147972697 0.01701
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.