ClinVar Miner

List of variants studied for B cell deficiency by Hadassah Hebrew University Medical Center

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_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs) rs1580974401
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250

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