ClinVar Miner

List of variants reported as pathogenic for alpha granule disease

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 31
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HGVS dbSNP
NC_000010.9:g.75329022_75406959dup
NM_001365116.2(NBEAL2):c.1721G>A (p.Trp574Ter) rs794726682
NM_001377304.1(GFI1B):c.793A>T (p.Lys265Ter) rs1554724694
NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter) rs587777211
NM_001377304.1(GFI1B):c.880dup (p.His294fs) rs397989794
NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro) rs775963992
NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro) rs387907113
NM_015175.2(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
NM_015175.2(NBEAL2):c.1793G>A (p.Trp598Ter) rs1553659758
NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val) rs387907114
NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter) rs387907112
NM_015175.2(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
NM_015175.2(NBEAL2):c.5413dup (p.Ala1805fs) rs794726683
NM_015175.2(NBEAL2):c.607dup (p.Ile203fs) rs1575592157
NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu) rs387907115
NM_015175.2(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter) rs372277612
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)
NM_015175.3(NBEAL2):c.2650-1G>A
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
NM_015175.3(NBEAL2):c.4485-1G>T
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.6920-1G>C
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)
Single allele

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