ClinVar Miner

List of variants in gene GFI1B reported as pathogenic for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001377304.1(GFI1B):c.793A>T (p.Lys265Ter) rs1554724694
NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter) rs587777211
NM_001377304.1(GFI1B):c.880dup (p.His294fs) rs397989794
NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro) rs775963992

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