ClinVar Miner

List of variants reported as benign for agammaglobulinemia by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP
NM_000626.3(CD79B):c.312C>T (p.Leu104=) rs116625909
NM_001006658.2(CR2):c.1395A>G (p.Gln465=) rs188078143
NM_001006658.2(CR2):c.1617C>T (p.Thr539=) rs34349246
NM_001006658.2(CR2):c.1622G>T (p.Ser541Ile) rs144075435
NM_001006658.2(CR2):c.2352T>C (p.Ile784=) rs142319454
NM_001006658.2(CR2):c.2445A>G (p.Gly815=) rs141282665
NM_001006658.2(CR2):c.2649T>C (p.Gly883=) rs1143665
NM_001006658.2(CR2):c.2844G>A (p.Glu948=) rs61754518
NM_001006658.2(CR2):c.3189-8_3189-7delCT rs112859639
NM_001006658.2(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.2(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001077494.3(NFKB2):c.1269G>A (p.Pro423=) rs4919633
NM_001077494.3(NFKB2):c.1296C>T (p.Cys432=) rs192635220
NM_001077494.3(NFKB2):c.1608C>A (p.Ile536=) rs34916280
NM_001077494.3(NFKB2):c.1821G>A (p.Ala607=) rs4919634
NM_001077494.3(NFKB2):c.1826G>A (p.Arg609Gln) rs200092317
NM_001077494.3(NFKB2):c.1869G>A (p.Gly623=) rs138786808
NM_001077494.3(NFKB2):c.1962C>T (p.Val654=) rs201623844
NM_001077494.3(NFKB2):c.2094C>T (p.Asn698=) rs11574851
NM_001077494.3(NFKB2):c.2145G>A (p.Ser715=) rs200006038
NM_001077494.3(NFKB2):c.2239C>T (p.Leu747=) rs11191279
NM_001077494.3(NFKB2):c.2467-9T>A rs11574853
NM_001077494.3(NFKB2):c.40G>A (p.Glu14Lys) rs45581936
NM_001077494.3(NFKB2):c.921G>A (p.Leu307=) rs146926941
NM_001199282.2(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_003809.2(TNFSF12):c.338-9A>G rs114577645
NM_003809.2(TNFSF12):c.597G>A (p.Ala199=) rs143039184
NM_003809.2(TNFSF12):c.609C>T (p.Leu203=) rs140608168
NM_003809.2(TNFSF12):c.642G>T (p.Gly214=) rs4968189
NM_005026.4(PIK3CD):c.1002C>T (p.Asn334=) rs28730670
NM_005026.4(PIK3CD):c.1005C>T (p.Ala335=) rs28730671
NM_005026.4(PIK3CD):c.1366A>G (p.Thr456Ala) rs28730674
NM_005026.4(PIK3CD):c.1809G>C (p.Leu603=) rs151278626
NM_005026.4(PIK3CD):c.1863C>T (p.Tyr621=) rs151235777
NM_005026.4(PIK3CD):c.1953C>T (p.Leu651=) rs140468930
NM_005026.4(PIK3CD):c.2319C>T (p.Ser773=) rs139848768
NM_005026.4(PIK3CD):c.2820T>C (p.His940=) rs28730679
NM_005026.4(PIK3CD):c.2919C>T (p.Leu973=) rs143168081
NM_005026.4(PIK3CD):c.3093G>C (p.Val1031=) rs149090253
NM_005026.4(PIK3CD):c.371-3C>T rs113176101
NM_005026.4(PIK3CD):c.371-5C>T rs149617980
NM_005026.4(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826
NM_005026.4(PIK3CD):c.678A>G (p.Thr226=) rs2230735
NM_005026.4(PIK3CD):c.708G>A (p.Pro236=) rs145697393
NM_005026.4(PIK3CD):c.886G>A (p.Val296Ile) rs28730668
NM_005026.4(PIK3CD):c.931-9G>C rs28730669
NM_005026.4(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420
NM_006726.4(LRBA):c.1015-10dup rs753223643
NM_006726.4(LRBA):c.1144T>C (p.Leu382=) rs62344598
NM_006726.4(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_006726.4(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_006726.4(LRBA):c.1513A>G (p.Ile505Val) rs35612775
NM_006726.4(LRBA):c.1603-4G>T rs143754610
NM_006726.4(LRBA):c.1689C>A (p.Pro563=) rs115894255
NM_006726.4(LRBA):c.204T>C (p.Thr68=) rs143383047
NM_006726.4(LRBA):c.217-9C>T rs1163872504
NM_006726.4(LRBA):c.2170A>G (p.Ile724Val) rs72719663
NM_006726.4(LRBA):c.2340A>G (p.Thr780=) rs79392371
NM_006726.4(LRBA):c.2469G>A (p.Ala823=) rs144453185
NM_006726.4(LRBA):c.2526T>C (p.Phe842=) rs139428189
NM_006726.4(LRBA):c.2634T>G (p.Pro878=) rs17027154
NM_006726.4(LRBA):c.2674G>A (p.Ala892Thr) rs151098394
NM_006726.4(LRBA):c.3331G>T (p.Val1111Leu) rs35250375
NM_006726.4(LRBA):c.3568A>G (p.Met1190Val) rs138173151
NM_006726.4(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681
NM_006726.4(LRBA):c.3874G>A (p.Val1292Ile) rs34678304
NM_006726.4(LRBA):c.4485C>T (p.Gly1495=) rs11735845
NM_006726.4(LRBA):c.4570-6delT rs145452262
NM_006726.4(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_006726.4(LRBA):c.4713G>A (p.Glu1571=) rs75761402
NM_006726.4(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133
NM_006726.4(LRBA):c.5100G>T (p.Leu1700=) rs61741557
NM_006726.4(LRBA):c.5241T>C (p.Asn1747=) rs72719631
NM_006726.4(LRBA):c.5581-5dup rs760075270
NM_006726.4(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351
NM_006726.4(LRBA):c.6420A>C (p.Ser2140=) rs144748889
NM_006726.4(LRBA):c.6814-3C>T rs58873298
NM_006726.4(LRBA):c.7437T>C (p.Ser2479=) rs150550923
NM_006726.4(LRBA):c.7597A>C (p.Thr2533Pro) rs62346982
NM_006726.4(LRBA):c.7663+10G>C rs57901153
NM_006726.4(LRBA):c.8121G>A (p.Ala2707=) rs78563281
NM_006726.4(LRBA):c.8139G>C (p.Leu2713Phe) rs34662958
NM_006726.4(LRBA):c.8361G>A (p.Leu2787=) rs116828023
NM_006726.4(LRBA):c.8584C>T (p.Arg2862Cys) rs145709687
NM_012092.3(ICOS):c.150A>G (p.Gln50=) rs55972840
NM_012092.3(ICOS):c.40C>T (p.Arg14Cys) rs77411896
NM_012092.3(ICOS):c.501+7G>A rs57149344
NM_012092.3(ICOS):c.58+9T>G rs140049646
NM_012452.2(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843
NM_012452.2(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083
NM_012452.2(TNFRSF13B):c.563_565delAGA (p.Lys188del) rs376630110
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
NM_012452.2(TNFRSF13B):c.61+10C>T rs148297590
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_013314.3(BLNK):c.195C>T (p.Ser65=) rs12261820
NM_013314.3(BLNK):c.262G>A (p.Ala88Thr) rs144903484
NM_013314.3(BLNK):c.270G>A (p.Glu90=) rs17111469
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013314.3(BLNK):c.48G>A (p.Arg16=) rs11540858
NM_013314.3(BLNK):c.526-5G>C rs17111459
NM_020070.3(IGLL1):c.207-9T>A rs201800585
NM_020070.3(IGLL1):c.276C>T (p.Asn92=) rs116275804
NM_020070.3(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.3(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.3(IGLL1):c.309G>A (p.Gln103=) rs114285337
NM_020070.3(IGLL1):c.393T>C (p.Ala131=) rs1064424
NM_020070.3(IGLL1):c.464C>T (p.Pro155Leu) rs145176864
NM_020070.3(IGLL1):c.475G>A (p.Gly159Ser) rs139571703
NM_020070.3(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.3(IGLL1):c.507C>T (p.Ser169=) rs74519217
NM_020070.3(IGLL1):c.549C>T (p.Pro183=) rs75088277
NM_020070.3(IGLL1):c.566G>A (p.Arg189His) rs8138122
NM_052945.3(TNFRSF13C):c.191_192delGCinsTT (p.Gly64Val) rs1556157858
NM_052945.3(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836
NM_052945.3(TNFRSF13C):c.282C>T (p.Val94=) rs190252814
NM_052945.3(TNFRSF13C):c.60C>T (p.Val20=) rs373828157
NM_181523.2(PIK3R1):c.1176C>T (p.Phe392=) rs3730090
NM_181523.2(PIK3R1):c.195A>G (p.Glu65=) rs73768883
NM_181523.2(PIK3R1):c.2109T>C (p.Leu703=) rs3729981
NM_181523.2(PIK3R1):c.571C>T (p.Leu191=) rs533077843
NM_181523.2(PIK3R1):c.621T>C (p.Ile207=) rs61749601
NM_181523.2(PIK3R1):c.687G>A (p.Ser229=) rs34175949
NM_181523.2(PIK3R1):c.837-7C>T rs571365105

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.