List of variants reported as pathogenic for 3-methylglutaconic aciduria type 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)	rs200212229	0.00012
NM_001698.3(AUH):c.824C>T (p.Ala275Val)	rs748318386	0.00004
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)	rs121434636	0.00003
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000009.12:g.91220993dup	rs781142774
NM_001698.3(AUH):c.197del (p.Gly66fs)	rs1219516037
NM_001698.3(AUH):c.197dup (p.Tyr67fs)
NM_001698.3(AUH):c.39dup (p.Ser14fs)
NM_001698.3(AUH):c.419-2A>G
NM_001698.3(AUH):c.471del (p.Phe157fs)
NM_001698.3(AUH):c.516dup (p.Val173fs)
NM_001698.3(AUH):c.95del (p.Pro32fs)

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.