ClinVar Miner

List of variants reported as benign for amino acid or protein metabolism disease with epilepsy by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000170.2(GLDC):c.*7G>C rs2228098
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000277.3(PAH):c.168+19T>C rs17842947
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115

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.