List of variants reported as pathogenic for B cell deficiency by SIB Swiss Institute of Bioinformatics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter)	rs746141726	0.00001
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter)	rs982121798
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter)	rs376598954
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter)	rs1568940507
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter)	rs2142884393
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter)	rs2095916574
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423

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