ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_000277.3(PAH):c.3G>C (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.60+62C>T rs1522296
NM_000277.3(PAH):c.782G>T (p.Arg261Leu) rs5030849

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.