List of variants reported as pathogenic for autosomal agammaglobulinemia by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)	rs1064422	0.00104
NC_000014.9:g.105854405C>T	rs376256147	0.00002
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)	rs74315491	0.00001
IGHM, 75-KB DEL
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
NC_000014.9:g.105854468A>C	rs267606871
NC_000014.9:g.105855107C>T	rs281865422
NC_000014.9:g.105855623_105855624del
NM_000626.4(CD79B):c.238C>T (p.Gln80Ter)	rs267606711
NM_000626.4(CD79B):c.409G>A (p.Gly137Ser)	rs121912424
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys)	rs879255271
NM_001783.4(CD79A):c.379+1G>A	rs1555843601
NM_001783.4(CD79A):c.380-2A>G	rs1600631593
NM_013314.4(BLNK):c.47+3A>T	rs2134166251
NM_020070.4(IGLL1):c.258del (p.Gln88fs)	rs532338576
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)	rs397509384

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