List of variants studied for Platelet-type bleeding disorder 17 by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)	rs527297896	0.00049
NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)	rs771408008	0.00006
NM_001377304.1(GFI1B):c.551G>A (p.Arg184His)	rs570058270	0.00002
NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)	rs753406078	0.00001
NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala)
NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile)	rs376762177
NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro)	rs570058270
NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)
NM_001377304.1(GFI1B):c.758G>A (p.Cys253Tyr)	rs1849225412
NM_001377304.1(GFI1B):c.782C>G (p.Ser261Cys)
NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter)	rs587777211
NM_001377304.1(GFI1B):c.981C>G (p.His327Gln)	rs147973999

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