ClinVar Miner

List of variants studied for agammaglobulinemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
Download table as spreadsheet
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_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
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_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_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_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_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279 0.01026
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_004356.4(CD81):c.648+10C>T rs34510250 0.00724
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337 0.00642
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
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_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met) rs143836544 0.00321
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp) rs117006898 0.00282
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
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_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844 0.00221
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_052945.4(TNFRSF13C):c.102C>T (p.Ala34=) rs567541615 0.00147
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697 0.00125
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_003200.5(TCF3):c.136G>A (p.Gly46Arg) rs143529809 0.00039
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=) rs146664456 0.00026
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001322934.2(NFKB2):c.243+20G>C rs371813362 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_152866.3(MS4A1):c.194C>T (p.Ala65Val) rs146626926 0.00013
NM_003200.5(TCF3):c.23C>T (p.Ala8Val) rs376780559 0.00008
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=) rs746401908 0.00006
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met) rs370932461 0.00006
NM_182972.3(IRF2BP2):c.1180A>C (p.Thr394Pro) rs138385624 0.00006
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=) rs190586278 0.00005
NC_000014.9:g.105854900G>T rs373184157 0.00003
NC_000014.9:g.105855203G>A
NC_000014.9:g.105856156C>T rs201981439
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_001783.4(CD79A):c.576C>A (p.Asn192Lys)
NM_003200.5(TCF3):c.1806G>A (p.Leu602=) rs1376446279
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) rs550914200
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val) rs969568429
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_006060.6(IKZF1):c.825G>A (p.Lys275=) rs1064796324
NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)
NM_012092.4(ICOS):c.395-19A>G
NM_013314.4(BLNK):c.1020C>T (p.Gly340=) rs375535673
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
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) rs1672238574

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.