ClinVar Miner

List of variants reported as pathogenic for DYRK1A-related intellectual disability syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs)	rs1601267617
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter)	rs1555984245

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.