ClinVar Miner

List of variants reported as likely benign for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP
NM_000061.2(BTK):c.*342T>G rs781937023
NM_000061.2(BTK):c.*342_*343delTG rs200445244
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000061.2(BTK):c.895-10G>A rs370812397
NM_000626.3(CD79B):c.381C>T (p.Asn127=) rs1555598971
NM_000626.3(CD79B):c.68-9A>G rs374896622
NM_001006658.2(CR2):c.1458T>C (p.Phe486=) rs147378770
NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu) rs143614333
NM_001006658.2(CR2):c.2006A>G (p.His669Arg) rs139230275
NM_001006658.2(CR2):c.2611G>T (p.Val871Leu) rs144572703
NM_001006658.2(CR2):c.2654G>A (p.Arg885His) rs140808707
NM_001006658.2(CR2):c.375C>T (p.Asn125=) rs138096192
NM_001006658.2(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.2(CR2):c.641G>A (p.Arg214His) rs141831783
NM_001006658.2(CR2):c.999G>A (p.Gly333=) rs139665677
NM_001077494.3(NFKB2):c.1170C>A (p.Ser390=) rs1200632324
NM_001077494.3(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697
NM_001077494.3(NFKB2):c.1386C>G (p.Leu462=) rs762807587
NM_001077494.3(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001077494.3(NFKB2):c.2072-3C>T rs201550645
NM_001077494.3(NFKB2):c.2167G>A (p.Asp723Asn) rs199577673
NM_001077494.3(NFKB2):c.216G>A (p.Lys72=) rs369551276
NM_001077494.3(NFKB2):c.2286C>T (p.Ser762=) rs899733509
NM_001077494.3(NFKB2):c.2418G>A (p.Thr806=) rs1488705625
NM_001077494.3(NFKB2):c.2601G>A (p.Ala867=) rs1438477157
NM_001077494.3(NFKB2):c.396-5C>T rs373971415
NM_001199282.2(LRBA):c.3948A>G (p.Gln1316=) rs35154927
NM_001783.3(CD79A):c.21C>T (p.Val7=) rs782746615
NM_001783.3(CD79A):c.419C>A (p.Thr140Asn) rs148797987
NM_001783.3(CD79A):c.534C>T (p.Ala178=) rs367608135
NM_003809.2(TNFSF12):c.42G>A (p.Gly14=) rs1170763703
NM_003809.2(TNFSF12):c.450C>T (p.Ile150=) rs147597489
NM_003809.2(TNFSF12):c.498+9delC rs1356188583
NM_005026.4(PIK3CD):c.1959C>T (p.Ser653=) rs536302735
NM_005026.4(PIK3CD):c.2314G>A (p.Gly772Ser) rs149376192
NM_005026.4(PIK3CD):c.2454C>T (p.Thr818=) rs140234838
NM_005026.4(PIK3CD):c.2838G>A (p.Lys946=) rs1553171834
NM_005026.4(PIK3CD):c.371-4G>A rs775036315
NM_005026.4(PIK3CD):c.633C>T (p.Asp211=) rs757257476
NM_005026.4(PIK3CD):c.639G>A (p.Pro213=) rs374739511
NM_005026.4(PIK3CD):c.765G>A (p.Pro255=) rs928182057
NM_006726.4(LRBA):c.1014+7A>C rs375965457
NM_006726.4(LRBA):c.1015-8T>C rs762827813
NM_006726.4(LRBA):c.1296T>C (p.Leu432=) rs111753976
NM_006726.4(LRBA):c.1713C>T (p.His571=) rs145812385
NM_006726.4(LRBA):c.2064T>C (p.His688=) rs145198687
NM_006726.4(LRBA):c.3373C>T (p.Leu1125=) rs138238756
NM_006726.4(LRBA):c.4323G>A (p.Arg1441=) rs145003932
NM_006726.4(LRBA):c.5004G>A (p.Pro1668=) rs775567440
NM_006726.4(LRBA):c.5460T>G (p.Pro1820=) rs565770808
NM_006726.4(LRBA):c.6196G>A (p.Val2066Met) rs138428438
NM_006726.4(LRBA):c.6354C>T (p.Ile2118=) rs199753191
NM_006726.4(LRBA):c.7011T>C (p.Asp2337=) rs1172980980
NM_006726.4(LRBA):c.7131T>C (p.Tyr2377=) rs751952359
NM_006726.4(LRBA):c.7602C>T (p.Pro2534=) rs1372828165
NM_006726.4(LRBA):c.7911T>C (p.His2637=) rs946590569
NM_006726.4(LRBA):c.8046A>C (p.Pro2682=) rs1553994424
NM_006726.4(LRBA):c.8082C>T (p.Thr2694=) rs144225937
NM_006726.4(LRBA):c.950G>A (p.Arg317Gln) rs151021623
NM_012092.3(ICOS):c.186C>T (p.Leu62=) rs1553499319
NM_012092.3(ICOS):c.531C>T (p.Asn177=) rs370645286
NM_012452.2(TNFRSF13B):c.165C>T (p.Asn55=) rs756655390
NM_012452.2(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807
NM_012452.2(TNFRSF13B):c.519C>T (p.Ala173=) rs151139237
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_013314.3(BLNK):c.321G>A (p.Pro107=) rs782386441
NM_013314.3(BLNK):c.648G>A (p.Thr216=) rs782356586
NM_013314.3(BLNK):c.780A>G (p.Pro260=) rs1554897574
NM_013314.3(BLNK):c.923T>C (p.Ile308Thr) rs144266674
NM_013314.3(BLNK):c.957A>C (p.Pro319=) rs149590334
NM_020070.3(IGLL1):c.334G>A (p.Ala112Thr) rs149986237
NM_020070.3(IGLL1):c.336C>T (p.Ala112=) rs140494226
NM_020070.3(IGLL1):c.618G>A (p.Thr206=) rs147356355
NM_052945.3(TNFRSF13C):c.132A>G (p.Lys44=) rs920471641
NM_052945.3(TNFRSF13C):c.137-7delG rs1299671576
NM_052945.3(TNFRSF13C):c.213G>A (p.Ala71=) rs767759337
NM_052945.3(TNFRSF13C):c.264A>G (p.Ala88=) rs778024793
NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940
NM_052945.3(TNFRSF13C):c.367+10G>T rs1052448266
NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766
NM_181523.2(PIK3R1):c.1185A>G (p.Pro395=) rs149905863
NM_181523.2(PIK3R1):c.1300-10A>C rs377666209
NM_181523.2(PIK3R1):c.1396T>C (p.Leu466=) rs754454562
NM_181523.2(PIK3R1):c.634+8T>C rs368138177

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.