ClinVar Miner

List of variants in gene ITGA2B reported as benign for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_000419.5(ITGA2B):c.3063C>T (p.Val1021=) rs5910 0.38791
NM_000419.5(ITGA2B):c.2188-7C>G rs850730 0.38774
NM_000419.5(ITGA2B):c.2094+13C>T rs12938868 0.02354
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_000419.5(ITGA2B):c.1848G>A (p.Val616=) rs79289329 0.00571
NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=) rs114232872 0.00531
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000419.5(ITGA2B):c.1846G>A (p.Val616Met) rs141885563 0.00088
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000419.5(ITGA2B):c.671-13C>T rs200108644 0.00026
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000419.5(ITGA2B):c.1600+11T>C
NM_000419.5(ITGA2B):c.1600+16G>T rs199614885
NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=) rs5912
NM_000419.5(ITGA2B):c.1815G>C (p.Pro605=)
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402
NM_000419.5(ITGA2B):c.2094+10C>A
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2943+18G>A
NM_000419.5(ITGA2B):c.891+12del rs373578804

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.