List of variants reported as likely pathogenic 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: 14

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HGVS	dbSNP	gnomAD frequency
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.1772A>C (p.Asp591Ala)	rs778608263	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.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.138dup (p.Gly47fs)	rs2143506473
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg)	rs1279297832
NM_000419.5(ITGA2B):c.559del (p.Val187fs)	rs1469711487
NM_000419.5(ITGA2B):c.800-1G>A

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