List of variants in gene AUH reported as likely pathogenic for 3-methylglutaconic aciduria type 1

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001698.3(AUH):c.656-2_656-1del	rs757748207	0.00004
NM_001698.3(AUH):c.505+1G>C	rs773652620	0.00002
NM_001698.3(AUH):c.656-2del	rs780964098	0.00002
NM_001698.3(AUH):c.719C>T (p.Ala240Val)	rs769894315	0.00002
NC_000009.11:g.(?_94118145)_(94118457_?)del
NM_001698.3(AUH):c.262+1G>C
NM_001698.3(AUH):c.373C>T (p.Arg125Trp)	rs200030276
NM_001698.3(AUH):c.556G>T (p.Gly186Cys)	rs1040881767
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)	rs1827482942
NM_001698.3(AUH):c.599-2A>G	rs1587799880
NM_001698.3(AUH):c.612_613insC (p.Met205fs)

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.