List of variants reported as pathogenic for B cell deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)	rs777436361	0.00003
NM_006846.4(SPINK5):c.81+2T>A	rs1131691490	0.00002
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)	rs753621591	0.00001
NM_000061.3(BTK):c.1257del (p.Lys420fs)	rs2147428293
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)	rs128621201
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter)	rs767889061
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs)	rs748978134

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