ClinVar Miner

List of variants reported as uncertain significance for adolescent-onset epilepsy syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_153033.4(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831

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.