List of variants in gene GAMT, NDUFS7 studied for inborn disorder of amino acid and other organic acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000156.6(GAMT):c.*276C>T	rs266810	0.07427
NM_000156.6(GAMT):c.*146A>C	rs659455	0.07418
NM_000156.6(GAMT):c.*151T>C	rs659460	0.07383
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)	rs17851582	0.07010
NM_000156.6(GAMT):c.*311C>G	rs266811	0.06572
NM_000156.6(GAMT):c.571-6G>A	rs2074899	0.03927
NC_000019.9:g.(?_1387800)_(1401485_?)del
NM_024407.5(NDUFS7):c.*13C>A	rs11551663

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.