ClinVar Miner

List of variants reported as pathogenic for alpha granule disease by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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NM_015175.2(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
NM_015175.2(NBEAL2):c.607dup (p.Ile203fs) rs1575592157
NM_015175.2(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs)
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) rs1575623114
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)
Single allele

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