ClinVar Miner

List of variants reported for Combined immunodeficiency due to LRBA deficiency by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln) rs201878879 0.00001
NM_001364905.1(LRBA):c.5324C>G (p.Ala1775Gly) rs552415217 0.00001
NM_001364905.1(LRBA):c.6056A>G (p.Glu2019Gly) rs531197525

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