List of variants in gene GFI1B reported as uncertain significance for platelet-type bleeding disorder 17

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.568C>T (p.Arg190Trp)	rs144046935	0.00002
NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)	rs753406078	0.00001
NM_001377304.1(GFI1B):c.230C>T (p.Pro77Leu)
NM_001377304.1(GFI1B):c.548G>A (p.Arg183Gln)
NM_001377304.1(GFI1B):c.648G>C (p.Gln216His)
NM_001377304.1(GFI1B):c.649-5G>C
NM_001377304.1(GFI1B):c.731del (p.Asp244fs)	rs2118905794
NM_001377304.1(GFI1B):c.758G>A (p.Cys253Tyr)	rs1849225412
NM_001377304.1(GFI1B):c.760G>A (p.Gly254Ser)
NM_001377304.1(GFI1B):c.869A>G (p.Asn290Ser)
NM_001377304.1(GFI1B):c.981C>G (p.His327Gln)	rs147973999

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