List of variants studied for Glanzmann thrombasthenia 2 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	rs121918450	0.00016
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)	rs121918452	0.00002
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)	rs121918446	0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)	rs121918444	0.00001
NM_000212.3(ITGB3):c.836A>T (p.Lys279Met)	rs79775494	0.00001
NG_008332.2:g.48605_58661del
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr)	rs121918449
NM_000212.3(ITGB3):c.165+1G>T	rs2143068731
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter)	rs121918451
NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs)	rs2143138089
NM_000212.3(ITGB3):c.2332T>C (p.Ser778Pro)	rs121918447
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr)	rs121918445
NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp)	rs79560904

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.