ClinVar Miner

List of variants studied for B cell deficiency by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu) rs764859619
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423

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