ClinVar Miner

List of variants studied for Gray platelet syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498 0.00002
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) rs1553659758

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