ClinVar Miner

List of variants studied for electroclinical syndrome by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs) rs2147160942
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746

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.