ClinVar Miner

List of variants reported as likely pathogenic for central nervous system malformation by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.2155+1G>C rs1555977199
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) rs1598480419

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.