ClinVar Miner

List of variants reported as likely pathogenic for Combined immunodeficiency due to LRBA deficiency by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001364905.1(LRBA):c.2259-2A>G	rs2127004616
NM_001364905.1(LRBA):c.4158+1G>C
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)

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