ClinVar Miner

List of variants reported as not provided for amino acid or protein metabolism disease with epilepsy

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.362G>T (p.Arg121Leu) rs770095972
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.155del (p.Leu52fs) rs281865165
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853

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.