ClinVar Miner

List of variants in gene ITGB2 reported as pathogenic by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) rs483352816
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) rs483352817
NM_000211.5(ITGB2):c.1877+2T>C rs483352818
NM_000211.5(ITGB2):c.1907del (p.Lys636fs) rs483352819
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.576dup (p.Asn193fs) rs483352813
NM_000211.5(ITGB2):c.843del (p.Asn282fs) rs483352815
NM_000211.5(ITGB2):c.897+1G>T rs201752283

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.