ClinVar Miner

List of variants reported as likely pathogenic for combined immunodeficiency due to LRBA deficiency by Hadassah Hebrew University Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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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

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