ClinVar Miner

List of variants in gene LRBA reported as pathogenic for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NC_000004.11:g.(?_151231361)_(151271331_?)del
NC_000004.11:g.(?_151509180)_(151656538_?)del
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter) rs199469664
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter) rs727503780
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) rs1560938296
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) rs1560914625
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) rs1554020278
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.6620_6621GA[2] (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs)
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)

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