ClinVar Miner

List of variants reported as likely benign for B cell deficiency by Immunology Clinic, Ucla

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.1402G>A (p.Ala468Thr) rs761356083 0.00006
NM_005026.5(PIK3CD):c.1478A>C (p.Glu493Ala) rs966409603

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