ClinVar Miner

List of variants reported as likely pathogenic for Gray platelet syndrome by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) rs1235183015 0.00001
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs)
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs)
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys)
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs)
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys)
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter)
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)
NM_015175.3(NBEAL2):c.7103dup (p.His2368fs)

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