ClinVar Miner

List of variants studied for combined immunodeficiency due to LRBA deficiency by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.6053A>G (p.Asp2018Gly) rs891747847 0.00001
NM_001364905.1(LRBA):c.6847G>A (p.Asp2283Asn) rs939898061 0.00001
NM_001364905.1(LRBA):c.6859A>G (p.Lys2287Glu) rs950337550 0.00001
NM_001364905.1(LRBA):c.1930C>T (p.Pro644Ser) rs1730263409
NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter) rs199750191
NM_001364905.1(LRBA):c.2521G>A (p.Ala841Thr) rs755188769

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