ClinVar Miner

List of variants reported as likely pathogenic for Gray platelet syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) rs1235183015 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) rs2037417315

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