ClinVar Miner

List of variants studied for central nervous system malformation by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) rs755246924 0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys) rs1477347690
TSEN54:c.[277T>C;919G>T]

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.