ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001396.4(DYRK1A):c.1030dup (p.Met344fs) rs1555985620
NM_001396.4(DYRK1A):c.1035G>A (p.Trp345Ter) rs1555985642
NM_001396.4(DYRK1A):c.1266del (p.Lys422fs) rs1555990751
NM_001396.4(DYRK1A):c.1302dup (p.Gly435fs) rs1555990816
NM_001396.4(DYRK1A):c.349C>T (p.Arg117Ter) rs1057518204
NM_001396.4(DYRK1A):c.558_559dup (p.Ile187fs) rs1555982591
NM_001396.4(DYRK1A):c.685_686del (p.Met229fs) rs1555984102
NM_001396.4(DYRK1A):c.830del (p.Ala277fs) rs1555984304

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.