List of variants studied for B cell deficiency by Centogene AG - the Rare Disease Company

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_182972.3(IRF2BP2):c.1330G>A (p.Ala444Thr)	rs766802305	0.00011
NM_001322934.2(NFKB2):c.1407C>G (p.Asp469Glu)	rs772211653	0.00004
NC_000014.9:g.105855132dup	rs2092930640
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)	rs1927036604
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	rs128621193
NM_001322934.2(NFKB2):c.2657C>A (p.Pro886Gln)	rs2135443850
NM_001364905.1(LRBA):c.8256C>A (p.Phe2752Leu)	rs773001726
NM_001364905.1(LRBA):c.863del (p.His288fs)	rs2149489382
NM_003200.5(TCF3):c.1670G>A (p.Arg557Gln)	rs2145853075
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter)	rs756955033

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