ClinVar Miner

List of variants reported as pathogenic for agranulocytosis by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs) rs1588038825
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs) rs771308343

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