ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.4485-1G>T rs763842878 0.00001
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs) rs781366964
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs) rs2036418481
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
NM_015175.3(NBEAL2):c.2650-1G>A rs2036570687
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter) rs2036579205
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) rs2037042664
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) rs2037048154
NM_015175.3(NBEAL2):c.607dup (p.Ile203fs) rs1575592157
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) rs1575623114
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) rs2037363765
NM_015175.3(NBEAL2):c.6920-1G>C rs2037428827
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs) rs2037501401
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs) rs2037558268

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