List of variants studied for B cell deficiency by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	rs121918575	0.00004
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp)	rs150269540	0.00003
NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn)	rs1283517835
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr)	rs1590715754
NM_003998.4(NFKB1):c.1423del (p.Ala475fs)	rs1578809101
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser)	rs1578771120
NM_003998.4(NFKB1):c.293T>A (p.Val98Asp)	rs1578771197
NM_003998.4(NFKB1):c.830dup (p.Lys278fs)	rs1578790573
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met)	rs1578793298
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)	rs1578793312
NM_020458.4(TTC7A):c.1802+3G>C	rs1572961263
Single allele

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