List of variants studied for B cell deficiency by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001250.6(CD40):c.-1T>C	rs1883832	0.79882
NM_020661.4(AICDA):c.156+16G>A	rs2518144	0.55804
NM_020661.4(AICDA):c.465C>T (p.His155=)	rs2028373	0.53597
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)	rs142558269	0.00581
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)	rs181639116	0.00297
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)	rs150374940	0.00202
NM_080911.3(UNG):c.533+6G>A	rs55812333	0.00163
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=)	rs35154927	0.00125
NM_139276.3(STAT3):c.1329C>T (p.Thr443=)	rs147955721	0.00091
NM_001364905.1(LRBA):c.1015-10del	rs753223643
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)

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