ClinVar Miner

List of variants reported as likely pathogenic for 3-Methylglutaconic aciduria type 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000116.3:c.(?_1)_(370_?)del
NM_000116.4(TAZ):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.4(TAZ):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.4(TAZ):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.4(TAZ):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.4(TAZ):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.4(TAZ):c.542-3C>G rs781795144
NM_000116.4(TAZ):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.4(TAZ):c.647G>T (p.Gly216Val) rs727504431
NM_000116.4(TAZ):c.823C>T (p.Gln275Ter) rs397515750
NM_181312.3(TAZ):c.794delC (p.Thr265Ilefs) rs1557194525
NM_181313.3(TAZ):c.658A>G (p.Lys220Glu) rs1557194488

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.