ClinVar Miner

List of variants reported as benign for Glanzmann thrombasthenia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.*1016T>A rs3809865 0.69848
NM_000212.3(ITGB3):c.2301+9C>T rs3809863 0.46212
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_000212.3(ITGB3):c.1533A>G (p.Glu511=) rs4642 0.28601
NM_000212.3(ITGB3):c.1545G>A (p.Arg515=) rs4634 0.28592
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) rs5918 0.13037
NM_000212.3(ITGB3):c.882T>C (p.Pro294=) rs5919 0.10166
NM_000212.3(ITGB3):c.*713A>G rs2317676 0.09380
NM_000212.3(ITGB3):c.*2327G>A rs58365772 0.05104
NM_000212.3(ITGB3):c.*671C>T rs16941864 0.04199
NM_000212.3(ITGB3):c.-7G>C rs117052258 0.02423
NM_000419.5(ITGA2B):c.2094+13C>T rs12938868 0.02354
NM_000212.3(ITGB3):c.342T>C (p.Ile114=) rs5920 0.01758
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_000212.3(ITGB3):c.*1479T>C rs115310198 0.01139
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_000212.3(ITGB3):c.2208C>T (p.Ala736=) rs73322311 0.00885
NM_000212.3(ITGB3):c.*2455A>C rs73322322 0.00876
NM_000212.3(ITGB3):c.*517C>T rs192380904 0.00587
NM_000212.3(ITGB3):c.*1985T>C rs148880380 0.00583
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_000212.3(ITGB3):c.58C>T (p.Leu20=) rs548495900 0.00345
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) rs5917 0.00091
NM_000419.5(ITGA2B):c.1846G>A (p.Val616Met) rs141885563 0.00088
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000212.3(ITGB3):c.*639G>A rs17225109
NM_000212.3(ITGB3):c.1143A>C (p.Val381=) rs15908
NM_000212.3(ITGB3):c.1143A>T (p.Val381=) rs15908
NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=) rs5912
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402

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