ClinVar Miner

List of variants reported as pathogenic for agammaglobulinemia by OMIM

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP
BLNK, IVS1DS, A-T, +3
BTK, 1-BP DEL, 1720A
BTK, 1-BP DEL, IVS11DS, +1G
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 16-BP INS, NT1263
BTK, 26-BP INS, NT2019
BTK, 4-BP DEL, CODON 527, GTTT
BTK, 6-BP INS, NT2041
BTK, 6.1-KB DEL
BTK, IVS12AS, A-T, -2
CD19, 1-BP INS, 972A
CD19, 2-BP DEL, 1384GA
CD79A, IVS2DS, G-A, +1
CD79A, IVS3AS, A-G, -2
ICOS, EX2-3 DEL
IGHM, 2-BP DEL, AA
IGHM, 75-KB DEL
IGHM, CYS412GLY
IGHM, IVS4AS, G-A, -1
LRRC8A, 1-BP INS, 2681T, TRANSLOCATION 20
MS4A1, IVS5DS, 11-BP INS AND 2-BP DEL
NC_000004.10:g.152111739_152222852del
NC_000014.8:g.106321212C>T rs281865422
NM_000061.2(BTK):c.-31+5G>A
NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) rs128621196
NM_000061.2(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.2(BTK):c.1223T>C (p.Leu408Pro) rs128621198
NM_000061.2(BTK):c.1275C>A (p.Tyr425Ter) rs128621199
NM_000061.2(BTK):c.1288A>G (p.Lys430Glu) rs128620184
NM_000061.2(BTK):c.141+3_141+4del rs864321661
NM_000061.2(BTK):c.1506C>A (p.Cys502Ter) rs41310709
NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.2(BTK):c.1631+1G>T rs1569291215
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) rs128621205
NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) rs128621206
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) rs128621208
NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.2(BTK):c.1889T>A (p.Met630Lys) rs128621210
NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) rs128622211
NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) rs128622212
NM_000061.2(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.2(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.2(BTK):c.310-1G>C rs864321662
NM_000061.2(BTK):c.310-2A>G rs864321663
NM_000061.2(BTK):c.338T>A (p.Val113Asp) rs128621190
NM_000061.2(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.2(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.2(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.2(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs) rs1569293253
NM_000061.2(BTK):c.642_643del (p.Ser214fs) rs1569292818
NM_000061.2(BTK):c.653del (p.Lys218fs) rs1569292813
NM_000061.2(BTK):c.718G>T (p.Glu240Ter) rs128621191
NM_000061.2(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.2(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.2(BTK):c.839+1G>A rs1569292649
NM_000061.2(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.2(BTK):c.919A>G (p.Arg307Gly) rs128621195
NM_000061.2(BTK):c.97A>C (p.Thr33Pro) rs128620189
NM_001006658.2(CR2):c.1225+1G>C rs398122864
NM_001006658.2(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001039933.3(CD79B):c.241C>T (p.Gln81Ter) rs267606711
NM_001039933.3(CD79B):c.412G>A (p.Gly138Ser) rs121912424
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs) rs727502786
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter) rs199469664
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter) rs727503780
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.6620_6621GA[2] (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001770.5(CD19):c.1464del (p.Ser489fs) rs886037921
NM_001770.5(CD19):c.156G>C (p.Trp52Cys) rs886037920
NM_001770.5(CD19):c.1653_*9delins23
NM_001770.5(CD19):c.947-1G>T rs1567506566
NM_003998.4(NFKB1):c.465dup (p.Ala156fs) rs869320754
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.835+2T>G rs869320689
NM_004356.3(CD81):c.561+1G>A rs587776775
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) rs587777390
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_006060.5(IKZF1):c.161-8388_589+2308del
NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln) rs770551610
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu) rs770551610
NM_006060.6(IKZF1):c.500A>G (p.His167Arg) rs869312884
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln) rs869312885
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) rs869312883
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) rs74315491
NM_021803.4(IL21):c.146T>C (p.Leu49Pro) rs587777338
NM_181523.3(PIK3R1):c.1300-1G>C rs1554051033
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1425+2T>A rs1554051075
NM_181523.3(PIK3R1):c.1425+2T>G rs1554051075
NM_181523.3(PIK3R1):c.1425+2_1425+3del rs1554051067
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384
NM_182972.2(IRF2BP2):c.1652G>A (p.Ser551Asn) rs1553319504
SH3KBP1, 247.5-KB DEL
TNFRSF13B, 1-BP INS, 204A
TNFRSF13C, 24-BP DEL, NT89

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