ClinVar Miner

List of variants studied for B cell deficiency by Department of Immunology, University Hospital Southampton NHSFT

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro) rs1387503550
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_139276.3(STAT3):c.1853G>A (p.Gly618Asp) rs1555563871
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139

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