ClinVar Miner

List of variants reported as benign for DYRK1A-related intellectual disability syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775
NM_001347721.2(DYRK1A):c.1213-7C>T rs199867876
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833
NM_001347721.2(DYRK1A):c.1645-7C>A
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105
NM_001347721.2(DYRK1A):c.1803_1805CCA[4] (p.His610del) rs760576043
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His) rs756785454
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.208-34A>G rs201001986
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala)
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val) rs1601336491
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly)
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser) rs147973077
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn) rs758888181
NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val) rs762466544

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.