List of variants reported as pathogenic for Glanzmann thrombasthenia 1 by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)	rs76811038	0.00006
NM_000419.5(ITGA2B):c.2602-3C>G	rs763330792	0.00003
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro)	rs137852911	0.00002
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys)	rs137852910	0.00001
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)	rs137852908
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)	rs1598380253
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del)	rs780017389
NM_000419.5(ITGA2B):c.1544+1G>A	rs879255509
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)	rs137852906
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His)	rs80277041
NM_000419.5(ITGA2B):c.188+484_892-70delinsCAATCCCACA
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)	rs80002943
NM_000419.5(ITGA2B):c.409-2_419del	rs879255508
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp)	rs137852907

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