List of variants studied for common variable immunodeficiency by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_139239.3(NFKBID):c.773C>T (p.Pro258Leu)	rs748957539	0.00003
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_001770.6(CD19):c.47T>C (p.Met16Thr)	rs745681190	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
NM_001770.6(CD19):c.854T>C (p.Leu285Pro)	rs764208673
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs)	rs1293048695
NM_139239.3(NFKBID):c.506G>T (p.Arg169Leu)	rs768512398

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