ClinVar Miner

List of variants studied for agammaglobulinemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_052945.4(TNFRSF13C):c.*120T>C rs7290134 0.41881
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_000061.3(BTK):c.*192G>A rs1057403 0.32006
NM_012092.4(ICOS):c.*2A>C rs10183087 0.29378
NM_012092.4(ICOS):c.*964T>C rs4404254 0.29332
NM_012092.4(ICOS):c.*1407G>A rs1559931 0.29190
NM_012092.4(ICOS):c.*1773G>C rs4675379 0.14872
NM_012092.4(ICOS):c.*1262A>G rs10932038 0.08229
NM_012092.4(ICOS):c.*859A>T rs10932036 0.08225
NM_012092.4(ICOS):c.*330G>A rs10932035 0.08223
NM_012092.4(ICOS):c.*1024C>T rs10932037 0.08219
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_012092.4(ICOS):c.*33T>C rs73058105 0.03775
NM_000061.3(BTK):c.*334T>G rs183674618 0.02721
NM_012092.4(ICOS):c.*1095A>G rs73991307 0.02660
NM_012092.4(ICOS):c.*855T>C rs73991306 0.02657
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_012092.4(ICOS):c.*1249G>A rs73991308 0.02203
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_052945.4(TNFRSF13C):c.192C>T (p.Gly64=) rs529563231 0.00721
NM_012092.4(ICOS):c.*995C>T rs190590580 0.00677
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_012092.4(ICOS):c.*1094C>T rs144036725 0.00599
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_012092.4(ICOS):c.*1300C>T rs181937379 0.00360
NM_052945.4(TNFRSF13C):c.282C>T (p.Val94=) rs190252814 0.00351
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_000061.3(BTK):c.*221G>T rs1122765 0.00340
NM_001770.6(CD19):c.1311C>T (p.Ser437=) rs148047850 0.00301
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_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_012092.4(ICOS):c.*1854G>A rs140979765 0.00184
NM_001770.6(CD19):c.1580-4C>A rs148808609 0.00128
NM_012092.4(ICOS):c.*1137C>T rs531066269 0.00123
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe) rs142818579 0.00099
NM_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_001770.6(CD19):c.147G>A (p.Gln49=) rs140445039 0.00084
NM_012092.4(ICOS):c.*1948G>T rs777338223 0.00080
NM_052945.4(TNFRSF13C):c.368-15C>A rs372331667 0.00073
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser) rs151243201 0.00073
NM_012092.4(ICOS):c.*1416G>T rs56259923 0.00071
NM_001770.6(CD19):c.836-13C>G rs371868433 0.00069
NM_012092.4(ICOS):c.375A>G (p.Gly125=) rs768500706 0.00064
NM_001770.6(CD19):c.406C>T (p.Leu136=) rs117769220 0.00048
NM_001770.6(CD19):c.*37A>G rs756122612 0.00040
NM_001770.6(CD19):c.*100T>C rs766679967 0.00035
NM_001770.6(CD19):c.527C>T (p.Pro176Leu) rs148200569 0.00033
NM_012092.4(ICOS):c.*1293T>C rs528769953 0.00032
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_000061.3(BTK):c.-105G>T rs1034801451 0.00028
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=) rs779365266 0.00027
NM_001770.6(CD19):c.-16G>A rs201081926 0.00019
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=) rs767759337 0.00019
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=) rs371805226 0.00017
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_012092.4(ICOS):c.*399G>A rs760083763 0.00014
NM_012092.4(ICOS):c.*1004C>G rs866710563 0.00013
NM_012092.4(ICOS):c.*1869A>C rs931854904 0.00013
NM_012092.4(ICOS):c.591G>A (p.Val197=) rs55655222 0.00012
NM_000061.3(BTK):c.*390G>A rs782012349 0.00011
NM_012092.4(ICOS):c.597A>G (p.Leu199=) rs145698501 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_001770.6(CD19):c.171G>A (p.Pro57=) rs199665700 0.00010
NM_000061.3(BTK):c.*342T>G rs781937023 0.00009
NM_001770.6(CD19):c.*180C>T rs886051890 0.00009
NM_001770.6(CD19):c.988A>G (p.Thr330Ala) rs373066835 0.00009
NM_001770.6(CD19):c.323A>C (p.Gln108Pro) rs776903049 0.00008
NM_012092.4(ICOS):c.*58T>G rs551768116 0.00008
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_012092.4(ICOS):c.*939A>G rs563893351 0.00006
NM_001770.6(CD19):c.*151G>A rs879933623 0.00005
NM_012092.4(ICOS):c.*77C>T rs769887283 0.00005
NM_001770.6(CD19):c.*204A>G rs910119387 0.00004
NM_001770.6(CD19):c.1371C>T (p.Asn457=) rs199570434 0.00004
NM_001770.6(CD19):c.846C>A (p.His282Gln) rs756204094 0.00004
NM_012092.4(ICOS):c.*512T>C rs577478606 0.00004
NM_052945.4(TNFRSF13C):c.*113G>A rs550105406 0.00004
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=) rs369626832 0.00004
NM_001770.6(CD19):c.1469G>A (p.Arg490Gln) rs146223289 0.00003
NM_001770.6(CD19):c.1635del (p.Gly546fs) rs774006181 0.00003
NM_001770.6(CD19):c.384C>T (p.Asp128=) rs200748731 0.00003
NM_001770.6(CD19):c.835+3A>G rs374608144 0.00003
NM_012092.4(ICOS):c.-24G>T rs576726896 0.00003
NM_012092.4(ICOS):c.42C>A (p.Arg14=) rs765158675 0.00003
NM_012092.4(ICOS):c.510A>G (p.Ser170=) rs148435889 0.00003
NM_052945.4(TNFRSF13C):c.165G>A (p.Thr55=) rs886057590 0.00003
NM_001770.6(CD19):c.*65A>G rs547923710 0.00002
NM_001770.6(CD19):c.788G>A (p.Arg263His) rs146126284 0.00002
NM_012092.4(ICOS):c.*594C>T rs1391651175 0.00002
NM_012092.4(ICOS):c.*73T>C rs756570847 0.00002
NM_000061.3(BTK):c.100G>A (p.Val34Met) rs141488935 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_001770.6(CD19):c.1204G>A (p.Glu402Lys) rs886051887 0.00001
NM_001770.6(CD19):c.488G>A (p.Arg163His) rs772346128 0.00001
NM_001770.6(CD19):c.687G>C (p.Glu229Asp) rs773781983 0.00001
NM_012092.4(ICOS):c.*1269A>C rs1430869619 0.00001
NM_012092.4(ICOS):c.*1457A>G rs749858926 0.00001
NM_012092.4(ICOS):c.*931A>G rs886055497 0.00001
NM_052945.4(TNFRSF13C):c.288G>A (p.Val96=) rs755167957 0.00001
NM_052945.4(TNFRSF13C):c.347C>T (p.Ala116Val) rs886057588 0.00001
NM_000061.3(BTK):c.*334TG[4] rs200445244
NM_000061.3(BTK):c.-87C>T rs1927601892
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) rs2147427580
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_001770.6(CD19):c.*11G>A rs535901247
NM_001770.6(CD19):c.*71C>T rs886051888
NM_001770.6(CD19):c.1580-14C>T rs376505803
NM_001770.6(CD19):c.17T>G (p.Leu6Arg) rs886051886
NM_001770.6(CD19):c.246T>C (p.Leu82=) rs1964665391
NM_001770.6(CD19):c.530G>C (p.Arg177Thr) rs1567504893
NM_001770.6(CD19):c.61G>C (p.Glu21Gln) rs771929657
NM_001770.6(CD19):c.705G>T (p.Pro235=) rs35979293
NM_003998.4(NFKB1):c.724G>C (p.Asp242His) rs2149184850
NM_005026.5(PIK3CD):c.1579G>A (p.Glu527Lys) rs749871179
NM_012092.4(ICOS):c.*1025A>G rs77882417
NM_012092.4(ICOS):c.*1025A>T rs77882417
NM_012092.4(ICOS):c.*1093C>T rs886055499
NM_012092.4(ICOS):c.*1172G>A rs1581609062
NM_012092.4(ICOS):c.*1901A>G rs1690178448
NM_012092.4(ICOS):c.*474G>T rs558652067
NM_012092.4(ICOS):c.*977T>G rs886055498
NM_012092.4(ICOS):c.184C>T (p.Leu62Phe) rs886055496
NM_012092.4(ICOS):c.495A>C (p.Thr165=) rs565719501
NM_012092.4(ICOS):c.501+6C>T rs4264550
NM_052945.4(TNFRSF13C):c.*107G>C rs2077623255
NM_052945.4(TNFRSF13C):c.*253C>T rs2077622673
NM_052945.4(TNFRSF13C):c.-10C>A rs886057591
NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=) rs544076556
NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val) rs2077628213
NM_052945.4(TNFRSF13C):c.368-13C>G rs201892760

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