List of variants in gene GFI1B reported as pathogenic for blood platelet disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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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.923T>C (p.Leu308Pro)	rs775963992	0.00001
NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala)
NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)
NM_001377304.1(GFI1B):c.724del (p.His242fs)	rs1564180346
NM_001377304.1(GFI1B):c.793A>T (p.Lys265Ter)	rs1554724694
NM_001377304.1(GFI1B):c.814+1G>A	rs1849228141
NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter)	rs587777211
NM_001377304.1(GFI1B):c.880dup (p.His294fs)	rs397989794

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