ClinVar Miner

List of variants studied for Gray platelet syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) rs1235183015 0.00001
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His) rs1362658024 0.00001
NM_015175.3(NBEAL2):c.4485-1G>T rs763842878 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=) rs1320380958 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.1933TTC[1] (p.Phe646del) rs1203437621
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro) rs1575602690
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu) rs1320075072
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.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg) rs2036808727
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys) rs1001207491
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) rs2037042664
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) rs2037048154
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_015175.3(NBEAL2):c.607dup (p.Ile203fs) rs1575592157
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg) rs2037277207
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) rs1575623114
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu) rs1575623184
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) rs2037363765
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) rs2037417315
NM_015175.3(NBEAL2):c.6920-1G>C rs2037428827
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro) rs377326649
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.7501C>T (p.His2501Tyr) rs1405730457
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs) rs2037558268
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro) rs2037641398

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