ClinVar Miner

List of variants reported as likely pathogenic for Glanzmann thrombasthenia 1

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
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.1946+3G>T
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
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
NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe) rs2048619428

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