ClinVar Miner

List of variants reported as pathogenic for alpha granule disease by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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.1928A>T (p.Glu643Val) rs387907114
NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter) rs387907112
NM_015175.2(NBEAL2):c.5413dup (p.Ala1805fs) rs794726683
NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu) rs387907115
NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter) rs372277612

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