ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NC_000021.8:g.(?_38792657)_(38884854_?)del
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter) rs1555979158
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) rs1569370887
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.637+2T>C rs1569371303
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461

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.