ClinVar Miner

List of variants reported as likely benign for amino acid or protein metabolism disease with epilepsy by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470

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.