List of variants reported as pathogenic for blood coagulation disease by Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp)	rs2048591163	0.00001
NM_000419.5(ITGA2B):c.1752+2T>C	rs769156315	0.00001
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter)	rs185135224
NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp)	rs2065157059
NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs)	rs2048646560
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys)	rs2048541187
NM_000419.5(ITGA2B):c.2975_2979del (p.Glu992fs)	rs2048521407

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