List of variants reported as benign for B cell deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 79

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HGVS	dbSNP	gnomAD frequency
NM_001770.6(CD19):c.520C>G (p.Leu174Val)	rs2904880	0.76211
NM_004356.4(CD81):c.597C>T (p.Ser199=)	rs14077	0.07917
NM_001322934.2(NFKB2):c.2467-9T>A	rs11574853	0.05268
NC_000014.9:g.105855041A>G	rs10287	0.05231
NM_152866.3(MS4A1):c.216C>T (p.Ile72=)	rs2070770	0.05151
NC_000014.9:g.105855988G>C	rs113762053	0.04825
NM_001250.6(CD40):c.606C>T (p.Phe202=)	rs7273698	0.04254
NM_001250.6(CD40):c.371C>T (p.Ser124Leu)	rs11569321	0.04146
NM_001770.6(CD19):c.1541G>A (p.Arg514His)	rs34763945	0.04099
NM_006060.6(IKZF1):c.161-8328C>A	rs76112582	0.03410
NM_020070.4(IGLL1):c.549C>T (p.Pro183=)	rs75088277	0.02804
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=)	rs76362154	0.02638
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=)	rs3750318	0.02605
NM_001364905.1(LRBA):c.6781-3C>T	rs58873298	0.02593
NM_020070.4(IGLL1):c.276C>T (p.Asn92=)	rs116275804	0.02588
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=)	rs17027154	0.02479
NM_001364905.1(LRBA):c.7630+10G>C	rs57901153	0.02351
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=)	rs4648093	0.02322
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu)	rs145176864	0.02290
NM_012092.4(ICOS):c.150A>G (p.Gln50=)	rs55972840	0.02252
NM_012092.4(ICOS):c.501+7G>A	rs57149344	0.02252
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser)	rs148187914	0.02203
NM_001250.6(CD40):c.403+20A>G	rs11699100	0.02132
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)	rs35879351	0.02129
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=)	rs11735845	0.02120
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_001364905.1(LRBA):c.2170A>G (p.Ile724Val)	rs72719663	0.01896
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val)	rs4648072	0.01884
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)	rs11999276	0.01838
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=)	rs4648039	0.01547
NM_001250.6(CD40):c.679C>G (p.Pro227Ala)	rs11086998	0.01523
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_001770.6(CD19):c.1486+18T>A	rs150575329	0.01255
NM_013314.4(BLNK):c.526-5G>C	rs17111459	0.01232
NM_001250.6(CD40):c.559+36G>C	rs41282788	0.01183
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=)	rs140820836	0.01159
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=)	rs11191279	0.01026
NM_020661.4(AICDA):c.210A>G (p.Leu70=)	rs104894984	0.00916
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=)	rs16930745	0.00880
NM_013314.4(BLNK):c.362-17T>C	rs118063042	0.00879
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp)	rs34708681	0.00859
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=)	rs61741557	0.00815
NM_001364905.1(LRBA):c.5171+20G>A	rs116225517	0.00791
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_020070.4(IGLL1):c.309G>A (p.Gln103=)	rs114285337	0.00642
NM_080911.3(UNG):c.291C>T (p.Ser97=)	rs3219210	0.00624
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_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)	rs62346982	0.00470
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys)	rs45581936	0.00433
NM_003200.5(TCF3):c.1713G>A (p.Glu571=)	rs143212973	0.00394
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=)	rs139428189	0.00376
NM_020661.4(AICDA):c.585T>C (p.Thr195=)	rs78590060	0.00370
NM_005026.5(PIK3CD):c.2820T>C (p.His940=)	rs28730679	0.00350
NM_012092.4(ICOS):c.58+9T>G	rs140049646	0.00348
NM_020661.4(AICDA):c.267C>T (p.Asp89=)	rs74334270	0.00326
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=)	rs151278626	0.00268
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=)	rs373828157	0.00260
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=)	rs201623844	0.00221
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)	rs143168081	0.00114
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile)	rs138622041	0.00102
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=)	rs146926941	0.00064
NM_001322934.2(NFKB2):c.243+20G>C	rs371813362	0.00014
NC_000014.9:g.105855203G>A
NC_000014.9:g.105856156C>T	rs201981439
NM_001250.6(CD40):c.646+27G>T
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=)	rs4648109
NM_019594.4(LRRC8A):c.-2C>T
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.97G>A (p.Val33Met)	rs116760479
NM_182972.3(IRF2BP2):c.-4G>C
NM_182972.3(IRF2BP2):c.281AGC[6] (p.Gln98dup)	rs371994015

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