List of variants reported as benign for autosomal agammaglobulinemia

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Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_013314.4(BLNK):c.48-52T>A	rs2168732	0.81631
NM_000626.4(CD79B):c.366T>C (p.Cys122=)	rs2070776	0.64196
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=)	rs3750319	0.60629
NM_013314.4(BLNK):c.361+71G>A	rs11188669	0.58528
NM_003200.5(TCF3):c.72+42T>C	rs1860661	0.56456
NM_181523.3(PIK3R1):c.334+14A>C	rs706714	0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)	rs706713	0.31073
NM_181523.3(PIK3R1):c.428-21G>A	rs171649	0.28654
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=)	rs3750320	0.24050
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)	rs3730089	0.22679
NM_003200.5(TCF3):c.145+133G>A	rs2302419	0.18839
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile)	rs73157031	0.10956
NM_013314.4(BLNK):c.1096-11A>T	rs74151283	0.05315
NC_000014.9:g.105855041A>G	rs10287	0.05231
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=)	rs3730090	0.04903
NC_000014.9:g.105855988G>C	rs113762053	0.04825
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)	rs3729981	0.04683
NM_013314.4(BLNK):c.48G>A (p.Arg16=)	rs11540858	0.03732
NM_020070.4(IGLL1):c.566G>A (p.Arg189His)	rs8138122	0.03470
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser)	rs139571703	0.03034
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)	rs61749601	0.02836
NM_020070.4(IGLL1):c.549C>T (p.Pro183=)	rs75088277	0.02804
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=)	rs3750318	0.02605
NM_020070.4(IGLL1):c.276C>T (p.Asn92=)	rs116275804	0.02588
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu)	rs145176864	0.02290
NM_020070.4(IGLL1):c.507C>T (p.Ser169=)	rs74519217	0.02030
NM_013314.4(BLNK):c.195C>T (p.Ser65=)	rs12261820	0.01993
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)	rs11999276	0.01838
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=)	rs35266233	0.01461
NM_019594.4(LRRC8A):c.2157+11C>T	rs11999754	0.01366
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=)	rs16930757	0.01361
NM_013314.4(BLNK):c.526-5G>C	rs17111459	0.01232
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=)	rs16930745	0.00880
NM_013314.4(BLNK):c.362-17T>C	rs118063042	0.00879
NM_000626.4(CD79B):c.312C>T (p.Leu104=)	rs116625909	0.00851
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=)	rs41275930	0.00741
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser)	rs1064421	0.00740
NM_181523.3(PIK3R1):c.1118+11G>A	rs140892282	0.00661
NM_020070.4(IGLL1):c.309G>A (p.Gln103=)	rs114285337	0.00642
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=)	rs73768883	0.00567
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val)	rs1064419	0.00538
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=)	rs11999752	0.00533
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=)	rs11999256	0.00516
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)	rs148612299	0.00489
NM_003200.5(TCF3):c.1713G>A (p.Glu571=)	rs143212973	0.00394
NM_013314.4(BLNK):c.270G>A (p.Glu90=)	rs17111469	0.00302
NM_000626.4(CD79B):c.118+12C>T	rs150429226	0.00242
NM_020070.4(IGLL1):c.393T>C (p.Ala131=)	rs1064424	0.00182
NM_013314.4(BLNK):c.262G>A (p.Ala88Thr)	rs144903484	0.00175
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)	rs34175949	0.00140
NM_020070.4(IGLL1):c.207-9T>A	rs201800585	0.00137
NM_013314.4(BLNK):c.132T>A (p.Pro44=)	rs147203646	0.00125
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile)	rs138622041	0.00102
NM_181523.3(PIK3R1):c.1426-20T>G	rs201254436	0.00083
NM_181523.3(PIK3R1):c.334+12T>C	rs189754791	0.00068
NM_020070.4(IGLL1):c.423T>C (p.Tyr141=)	rs143849749	0.00055
NM_013314.4(BLNK):c.1096-16A>T	rs80026049	0.00035
NM_181523.3(PIK3R1):c.634+6T>C	rs199530427	0.00020
NM_000626.4(CD79B):c.550-17T>C	rs199521114	0.00018
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=)	rs17847317	0.00015
NM_020070.4(IGLL1):c.492G>A (p.Thr164=)	rs148071349	0.00013
NM_000626.4(CD79B):c.550-8G>A	rs202115514	0.00012
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=)	rs538021528	0.00011
NM_013314.4(BLNK):c.744C>T (p.Ala248=)	rs147455437	0.00005
NM_013314.4(BLNK):c.164-9C>T	rs587723501	0.00001
NM_181523.3(PIK3R1):c.1569-18C>T	rs557466936	0.00001
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)	rs533077843	0.00001
NC_000014.9:g.105855203G>A
NC_000014.9:g.105856156C>T	rs201981439
NM_000626.4(CD79B):c.102G>C (p.Arg34=)	rs549278202
NM_000626.4(CD79B):c.549+11del	rs750893342
NM_000626.4(CD79B):c.67+17G>C	rs373437028
NM_001783.4(CD79A):c.379+23dup
NM_001783.4(CD79A):c.499-10A>C
NM_001783.4(CD79A):c.499-14A>C
NM_013314.4(BLNK):c.1096-17del	rs201454460
NM_013314.4(BLNK):c.1096-9dup
NM_013314.4(BLNK):c.171T>C (p.Pro57=)	rs727852
NM_013314.4(BLNK):c.48-5dup
NM_013314.4(BLNK):c.608-22CA[5]	rs200821324
NM_013314.4(BLNK):c.775-12del
NM_019594.4(LRRC8A):c.-2C>T
NM_020070.4(IGLL1):c.254G>T (p.Arg85Leu)	rs200178386
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys)	rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=)	rs115303391
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys)	rs111903752
NM_020070.4(IGLL1):c.485T>C (p.Met162Thr)	rs111903752
NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr)	rs199718215
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)	rs1555903974
NM_020070.4(IGLL1):c.624C>T (p.Ala208=)
NM_020070.4(IGLL1):c.97G>A (p.Val33Met)	rs116760479
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
NM_181523.3(PIK3R1):c.837-7C>T	rs571365105
NM_181523.3(PIK3R1):c.916+9T>G

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