ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001698.2(AUH):c.*107A>G rs75505223
NM_001698.2(AUH):c.*218_*219del rs1057515675
NM_001698.2(AUH):c.*259_*262del rs377176126
NM_001698.2(AUH):c.*29G>A rs200499826
NM_001698.2(AUH):c.*432C>T rs746233646
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.381A>G (p.Ile127Met) rs146227896
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.