ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by SingHealth Duke-NUS Institute of Precision Medicine

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_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) rs1562085332
NM_004531.5(MOCS2):c.-633C>T rs121908607

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.