ClinVar Miner

List of variants in gene LRBA reported as likely pathogenic for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
NM_001364905.1(LRBA):c.5645+2T>A
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)

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