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: 246
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HGVS dbSNP
NC_000014.9:g.105854900G>T
NM_000061.2(BTK):c.*342T>G rs781937023
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.895-10G>A rs370812397
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000626.4(CD79B):c.303C>T (p.Asn101=)
NM_000626.4(CD79B):c.381C>T (p.Asn127=) rs1555598971
NM_000626.4(CD79B):c.431-3C>T
NM_000626.4(CD79B):c.431-4G>A
NM_000626.4(CD79B):c.48G>A (p.Ala16=)
NM_000626.4(CD79B):c.645A>G (p.Thr215=)
NM_000626.4(CD79B):c.67+10C>A
NM_000626.4(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.3033G>C (p.Gln1011His) rs200182370
NM_001006658.2(CR2):c.389T>C (p.Val130Ala) rs543886209
NM_001006658.2(CR2):c.641G>A (p.Arg214His) rs141831783
NM_001006658.2(CR2):c.970C>T (p.Arg324Cys) rs147393483
NM_001006658.2(CR2):c.999G>A (p.Gly333=) rs139665677
NM_001006658.3(CR2):c.1043C>T (p.Ala348Val)
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)
NM_001006658.3(CR2):c.1274A>T (p.His425Leu)
NM_001006658.3(CR2):c.135C>T (p.Thr45=)
NM_001006658.3(CR2):c.1402+8G>A
NM_001006658.3(CR2):c.1650C>T (p.Thr550=)
NM_001006658.3(CR2):c.1665A>T (p.Thr555=)
NM_001006658.3(CR2):c.2146C>T (p.Arg716Trp)
NM_001006658.3(CR2):c.2155+7del
NM_001006658.3(CR2):c.2226G>A (p.Thr742=)
NM_001006658.3(CR2):c.2538C>T (p.Arg846=)
NM_001006658.3(CR2):c.2628T>G (p.Asn876Lys)
NM_001006658.3(CR2):c.2694T>C (p.Gly898=)
NM_001006658.3(CR2):c.2739G>A (p.Pro913=)
NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile)
NM_001006658.3(CR2):c.2836G>A (p.Val946Met)
NM_001006658.3(CR2):c.2903-3C>A
NM_001006658.3(CR2):c.3165C>T (p.Tyr1055=)
NM_001006658.3(CR2):c.456C>T (p.Leu152=)
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.3(CR2):c.666C>T (p.Pro222=)
NM_001006658.3(CR2):c.763C>A (p.Arg255=)
NM_001287344.1(BTK):c.*334_*335TG[4] rs200445244
NM_001322934.2(NFKB2):c.1137C>T (p.Phe379=)
NM_001322934.2(NFKB2):c.1170C>A (p.Ser390=) rs1200632324
NM_001322934.2(NFKB2):c.118C>T (p.Leu40=)
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697
NM_001322934.2(NFKB2):c.1386C>G (p.Leu462=) rs762807587
NM_001322934.2(NFKB2):c.1590C>T (p.Pro530=)
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=)
NM_001322934.2(NFKB2):c.1980C>T (p.Asn660=)
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645
NM_001322934.2(NFKB2):c.2167G>A (p.Asp723Asn) rs199577673
NM_001322934.2(NFKB2):c.216G>A (p.Lys72=) rs369551276
NM_001322934.2(NFKB2):c.2249C>T (p.Ala750Val)
NM_001322934.2(NFKB2):c.2286C>T (p.Ser762=) rs899733509
NM_001322934.2(NFKB2):c.2349C>T (p.Asp783=)
NM_001322934.2(NFKB2):c.2350G>A (p.Gly784Arg) rs367889547
NM_001322934.2(NFKB2):c.2604C>T (p.Tyr868=)
NM_001322934.2(NFKB2):c.2676C>T (p.His892=)
NM_001322934.2(NFKB2):c.396-5C>T rs373971415
NM_001322934.2(NFKB2):c.579C>T (p.Arg193=)
NM_001322934.2(NFKB2):c.840T>C (p.Asp280=)
NM_001322934.2(NFKB2):c.992-5C>T
NM_001322934.2(NFKB2):c.9T>C (p.Ser3=)
NM_001364905.1(LRBA):c.1014+7A>C rs375965457
NM_001364905.1(LRBA):c.103C>T (p.Leu35=)
NM_001364905.1(LRBA):c.1071C>T (p.Phe357=)
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=)
NM_001364905.1(LRBA):c.1551A>G (p.Glu517=)
NM_001364905.1(LRBA):c.1695C>T (p.Leu565=)
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385
NM_001364905.1(LRBA):c.1755+10A>G
NM_001364905.1(LRBA):c.2064T>C (p.His688=) rs145198687
NM_001364905.1(LRBA):c.2406A>G (p.Lys802=)
NM_001364905.1(LRBA):c.2466T>G (p.Ile822Met)
NM_001364905.1(LRBA):c.2619C>G (p.Leu873=)
NM_001364905.1(LRBA):c.2811G>A (p.Arg937=) rs367738505
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=)
NM_001364905.1(LRBA):c.3012A>G (p.Ala1004=)
NM_001364905.1(LRBA):c.3207C>A (p.Gly1069=) rs762031957
NM_001364905.1(LRBA):c.3373C>T (p.Leu1125=) rs138238756
NM_001364905.1(LRBA):c.3726G>A (p.Ala1242=)
NM_001364905.1(LRBA):c.375T>A (p.Leu125=)
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927
NM_001364905.1(LRBA):c.4100A>G (p.Asn1367Ser)
NM_001364905.1(LRBA):c.4323G>A (p.Arg1441=) rs145003932
NM_001364905.1(LRBA):c.4338A>G (p.Leu1446=) rs201059532
NM_001364905.1(LRBA):c.4377A>G (p.Gln1459=)
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=)
NM_001364905.1(LRBA):c.4515G>A (p.Arg1505=)
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_001364905.1(LRBA):c.4956G>A (p.Pro1652=)
NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=) rs775567440
NM_001364905.1(LRBA):c.5460T>G (p.Pro1820=) rs565770808
NM_001364905.1(LRBA):c.6036C>T (p.Ala2012=)
NM_001364905.1(LRBA):c.6163G>A (p.Val2055Met) rs138428438
NM_001364905.1(LRBA):c.6321C>T (p.Ile2107=) rs199753191
NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn) rs142598024
NM_001364905.1(LRBA):c.6331-8C>G
NM_001364905.1(LRBA):c.6375A>G (p.Thr2125=)
NM_001364905.1(LRBA):c.6396T>C (p.Ser2132=)
NM_001364905.1(LRBA):c.6662T>C (p.Ile2221Thr) rs116526975
NM_001364905.1(LRBA):c.6780+8C>T
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835
NM_001364905.1(LRBA):c.6906A>G (p.Ala2302=)
NM_001364905.1(LRBA):c.6978T>C (p.Asp2326=) rs1172980980
NM_001364905.1(LRBA):c.6979C>A (p.Arg2327=)
NM_001364905.1(LRBA):c.7098T>C (p.Tyr2366=) rs751952359
NM_001364905.1(LRBA):c.7569C>T (p.Pro2523=) rs1372828165
NM_001364905.1(LRBA):c.7605G>A (p.Ala2535=)
NM_001364905.1(LRBA):c.7878T>C (p.His2626=) rs946590569
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) rs143625481
NM_001364905.1(LRBA):c.7887C>T (p.Val2629=)
NM_001364905.1(LRBA):c.8013A>C (p.Pro2671=) rs1553994424
NM_001364905.1(LRBA):c.8049C>T (p.Thr2683=) rs144225937
NM_001364905.1(LRBA):c.8061T>C (p.Tyr2687=)
NM_001364905.1(LRBA):c.8133C>T (p.Leu2711=)
NM_001364905.1(LRBA):c.8200C>T (p.Leu2734Phe)
NM_001364905.1(LRBA):c.8517C>T (p.Asn2839=)
NM_001364905.1(LRBA):c.950G>A (p.Arg317Gln) rs151021623
NM_001770.5(CD19):c.1311C>T (p.Ser437=) rs148047850
NM_001770.5(CD19):c.381G>A (p.Ser127=) rs142342927
NM_001770.5(CD19):c.390T>A (p.Gly130=) rs573154781
NM_001770.5(CD19):c.406C>T (p.Leu136=) rs117769220
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_001783.4(CD79A):c.336C>T (p.Asn112=)
NM_001783.4(CD79A):c.513C>T (p.Asn171=)
NM_003200.5(TCF3):c.1806G>A (p.Leu602=)
NM_003200.5(TCF3):c.879_881CTC[1] (p.Ser295del)
NM_003200.5(TCF3):c.888C>T (p.Ala296=)
NM_003809.3(TNFSF12):c.357G>A (p.Gln119=)
NM_003809.3(TNFSF12):c.374-9C>T
NM_003809.3(TNFSF12):c.42G>A (p.Gly14=) rs1170763703
NM_003809.3(TNFSF12):c.450C>T (p.Ile150=) rs147597489
NM_003809.3(TNFSF12):c.498+9del rs1356188583
NM_005026.5(PIK3CD):c.1131C>T (p.Phe377=)
NM_005026.5(PIK3CD):c.1212T>C (p.Ala404=)
NM_005026.5(PIK3CD):c.1284C>T (p.Tyr428=)
NM_005026.5(PIK3CD):c.1353G>A (p.Glu451=)
NM_005026.5(PIK3CD):c.1401C>T (p.Ser467=)
NM_005026.5(PIK3CD):c.1440G>A (p.Pro480=)
NM_005026.5(PIK3CD):c.1503G>A (p.Val501=)
NM_005026.5(PIK3CD):c.1533G>A (p.Leu511=)
NM_005026.5(PIK3CD):c.1905C>T (p.Asp635=)
NM_005026.5(PIK3CD):c.2265G>A (p.Lys755=)
NM_005026.5(PIK3CD):c.2314G>A (p.Gly772Ser) rs149376192
NM_005026.5(PIK3CD):c.2676C>T (p.Gly892=)
NM_005026.5(PIK3CD):c.2838G>A (p.Lys946=) rs1553171834
NM_005026.5(PIK3CD):c.2873G>A (p.Gly958Asp)
NM_005026.5(PIK3CD):c.2899C>T (p.Leu967=)
NM_005026.5(PIK3CD):c.2997+10G>A
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=) rs146664456
NM_005026.5(PIK3CD):c.371-4G>A rs775036315
NM_005026.5(PIK3CD):c.449C>T (p.Ala150Val)
NM_005026.5(PIK3CD):c.522G>A (p.Ser174=)
NM_005026.5(PIK3CD):c.633C>T (p.Asp211=) rs757257476
NM_005026.5(PIK3CD):c.780+9G>A
NM_005026.5(PIK3CD):c.897G>A (p.Pro299=)
NM_005026.5(PIK3CD):c.930+10C>T
NM_012092.3(ICOS):c.*1025A>G rs77882417
NM_012092.3(ICOS):c.*58T>G rs551768116
NM_012092.3(ICOS):c.105C>T (p.Asn35=) rs201031378
NM_012092.3(ICOS):c.186C>T (p.Leu62=) rs1553499319
NM_012092.3(ICOS):c.451G>C (p.Val151Leu) rs76778263
NM_012092.3(ICOS):c.531C>T (p.Asn177=) rs370645286
NM_012092.4(ICOS):c.93T>C (p.Phe31=)
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.568G>C (p.Gly190Arg)
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_012452.3(TNFRSF13B):c.105C>T (p.Pro35=)
NM_012452.3(TNFRSF13B):c.226G>A (p.Gly76Ser)
NM_012452.3(TNFRSF13B):c.561G>A (p.Lys187=)
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His)
NM_012452.3(TNFRSF13B):c.648C>T (p.Ala216=)
NM_012452.3(TNFRSF13B):c.843T>C (p.Ile281=)
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_013314.4(BLNK):c.115C>T (p.Leu39=) rs34135972
NM_013314.4(BLNK):c.1252-4C>T
NM_013314.4(BLNK):c.177C>T (p.Asp59=)
NM_013314.4(BLNK):c.288C>T (p.Tyr96=)
NM_013314.4(BLNK):c.552T>C (p.Asp184=)
NM_013314.4(BLNK):c.558T>C (p.Asp186=)
NM_013314.4(BLNK):c.759G>A (p.Thr253=)
NM_019594.3(LRRC8A):c.1586C>T (p.Ala529Val)
NM_019594.3(LRRC8A):c.1699G>A (p.Val567Met) rs143836544
NM_019594.3(LRRC8A):c.203C>T (p.Ser68Leu)
NM_020070.4(IGLL1):c.253C>T (p.Arg85Trp)
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237
NM_020070.4(IGLL1):c.336C>T (p.Ala112=) rs140494226
NM_020070.4(IGLL1):c.342C>G (p.Pro114=)
NM_020070.4(IGLL1):c.345G>A (p.Ser115=)
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile)
NM_020070.4(IGLL1):c.359C>T (p.Pro120Leu)
NM_020070.4(IGLL1):c.360G>A (p.Pro120=)
NM_020070.4(IGLL1):c.420T>C (p.Phe140=) rs1064423
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194
NM_020070.4(IGLL1):c.438G>A (p.Thr146=)
NM_020070.4(IGLL1):c.468C>A (p.Ile156=)
NM_020070.4(IGLL1):c.594C>T (p.His198=)
NM_020070.4(IGLL1):c.618G>A (p.Thr206=) rs147356355
NM_020070.4(IGLL1):c.67C>T (p.Arg23Cys)
NM_052945.3(TNFRSF13C):c.102C>T (p.Ala34=)
NM_052945.3(TNFRSF13C):c.132A>G (p.Lys44=) rs920471641
NM_052945.3(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394
NM_052945.3(TNFRSF13C):c.192C>T (p.Gly64=) rs529563231
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.282C>T (p.Val94=) rs190252814
NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940
NM_052945.3(TNFRSF13C):c.351C>G (p.Pro117=)
NM_052945.3(TNFRSF13C):c.367+10G>T rs1052448266
NM_052945.3(TNFRSF13C):c.375G>A (p.Glu125=)
NM_052945.3(TNFRSF13C):c.405G>A (p.Pro135=)
NM_052945.3(TNFRSF13C):c.436C>T (p.Pro146Ser)
NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766
NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543
NM_052945.4(TNFRSF13C):c.368-13C>G
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=)
NM_181523.3(PIK3R1):c.1020-3C>T rs200653607
NM_181523.3(PIK3R1):c.1119-9T>C
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) rs149905863
NM_181523.3(PIK3R1):c.1300-10A>C rs377666209
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) rs754454562
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=)
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=)
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=)
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=)
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=)
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=)
NM_181523.3(PIK3R1):c.427+5C>A
NM_181523.3(PIK3R1):c.634+8T>C rs368138177
NM_181523.3(PIK3R1):c.648C>T (p.Ser216=)

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