ClinVar Miner

List of variants reported as likely benign for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_002658.5(PLAU):c.57+6T>C rs770181188
NM_002658.6(PLAU):c.236G>C (p.Arg79Pro)
NM_002658.6(PLAU):c.453C>T (p.Cys151=)
NM_015175.2(NBEAL2):c.*219A>C rs1048808
NM_015175.2(NBEAL2):c.*65A>G rs538014431
NM_015175.2(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016
NM_015175.2(NBEAL2):c.1600C>T (p.Arg534Cys) rs202209383
NM_015175.2(NBEAL2):c.2376G>A (p.Arg792=) rs200489667
NM_015175.2(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926
NM_015175.2(NBEAL2):c.4485-8C>T rs145760682
NM_015175.2(NBEAL2):c.4669C>G (p.Leu1557Val) rs534419583
NM_015175.2(NBEAL2):c.4978C>T (p.Arg1660Cys) rs142355538
NM_015175.2(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643
NM_015175.2(NBEAL2):c.5301+11C>T rs201354947
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala)
NM_015175.3(NBEAL2):c.6866G>A rs181413143
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299

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