ClinVar Miner

List of variants studied for Glanzmann thrombasthenia 1 by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450 0.00016
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser) rs766423016 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) rs137852910 0.00001
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) rs75622274 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) rs77961246 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2417G>A (p.Ser806Asn) rs1189791675 0.00001
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) rs78657866 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs) rs2143150604
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) rs887221055
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) rs767548512
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000419.4:c.(1210+1_1211-1)_(1878+1_1879-1)del
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1210+609C>T
NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1375G>A (p.Asp459Asn)
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) rs780837520
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000419.5(ITGA2B):c.205G>A (p.Gly69Ser)
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.2637del (p.Ile880fs) rs2048535487
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) rs2048646082
NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs) rs76572092
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg) rs1279297832
NM_000419.5(ITGA2B):c.533G>C (p.Arg178Pro)
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.800-1G>A
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426

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