ClinVar Miner

List of variants in gene GFI1B reported as likely pathogenic for gray platelet syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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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.521C>T (p.Thr174Ile) rs376762177
NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro) rs570058270

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