List of variants studied for 3-Methylglutaconic aciduria type 2 by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)	rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)	rs397515740
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)	rs397515741
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)	rs397515739
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)	rs397515746
NM_000116.5(TAFAZZIN):c.700-1G>A	rs397515747

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.