ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_006306.3(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu) rs947067048

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.