ClinVar Miner

List of variants reported as likely pathogenic for B cell deficiency by Centogene AG - the Rare Disease Company

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000014.9:g.105855132dup rs2092930640
NM_001364905.1(LRBA):c.863del (p.His288fs) rs2149489382
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) rs756955033

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