ClinVar Miner

List of variants in gene combination CERS1, GDF1 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_021267.4(CERS1):c.178C>T (p.Leu60=) rs760185006
NM_021267.4(CERS1):c.258G>A (p.Ala86=) rs1038592004
NM_021267.4(CERS1):c.477T>C (p.Tyr159=) rs1426719277
NM_021267.4(CERS1):c.582C>T (p.Tyr194=) rs779941388
NM_021267.4(CERS1):c.590+9A>G rs200695801
NM_021267.4(CERS1):c.834C>T (p.Ile278=) rs781327266
NM_021267.4(CERS1):c.898C>T (p.Leu300=) rs373928623
NM_021267.4(CERS1):c.906C>T (p.Ile302=) rs377364343

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.