List of variants reported as likely pathogenic for Bernard Soulier syndrome by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter)	rs1375190381	0.00001
NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser)	rs1197982563	0.00001
NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer)	rs1172767977
NM_000173.7(GP1BA):c.1480del (p.Thr494fs)	rs759573909
NM_000173.7(GP1BA):c.1951dup (p.Ser651fs)	rs1597640885
NM_000174.5(GP9):c.259T>C (p.Trp87Arg)	rs766253334
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	rs121909752
NM_000407.5(GP1BB):c.272G>A (p.Trp91Ter)
NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr)
NM_000407.5(GP1BB):c.462_511del (p.Gln154fs)
NM_000407.5(GP1BB):c.491dup (p.His164fs)
NM_000407.5(GP1BB):c.536_545del (p.Arg179fs)
NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu)	rs2145795850

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