List of variants reported as likely pathogenic for Glanzmann thrombasthenia by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)	rs778608263	0.00003
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)	rs781062792	0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)	rs958609406	0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)	rs1214448436	0.00001
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro)	rs1598694640
NM_000212.3(ITGB3):c.55dup (p.Ala19fs)	rs1302506624
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg)	rs1598690979
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln)	rs1598381654
NM_000419.5(ITGA2B):c.1211-1G>C	rs1598380380
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	rs1598377051
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala)	rs759664025
NM_000419.5(ITGA2B):c.574+5G>A	rs1598383011
NM_000419.5(ITGA2B):c.998+1G>C	rs1598381778

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