ClinVar Miner

List of variants studied for Combined immunodeficiency due to LRBA deficiency by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000004.10:g.152111739_152222852del
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.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663

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