ClinVar Miner

List of variants reported as likely pathogenic for amino acid or protein metabolism disease with epilepsy by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000277.3(PAH):c.842+5G>A rs62516146
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797

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.