List of variants studied for B cell deficiency by GenomeConnect - Invitae Patient Insights Network

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)	rs151095402	0.00090
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile)	rs202244838	0.00067
NM_203447.4(DOCK8):c.4774T>C (p.Phe1592Leu)	rs200152962	0.00012
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys)	rs370311628	0.00011
NM_020070.4(IGLL1):c.221G>A (p.Arg74His)	rs368706509	0.00005
NM_005026.5(PIK3CD):c.2347+6G>A	rs368607726	0.00004
NM_001364905.1(LRBA):c.5293G>A (p.Gly1765Arg)	rs368450966	0.00001
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn)	rs374938180	0.00001
NM_000565.4(IL6R):c.992T>C (p.Met331Thr)
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu)	rs1560877215
NM_139276.3(STAT3):c.875C>G (p.Ser292Cys)	rs1598415625

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