ClinVar Miner

List of variants reported as uncertain significance for B cell deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 442
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.*1137A>G rs867594346 0.05656
NM_020661.4(AICDA):c.*1136A>G rs371020938 0.03007
NM_020661.4(AICDA):c.*1453_*1454insG rs201738977 0.01403
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_006846.4(SPINK5):c.*358A>G rs527953668 0.00689
NM_012092.4(ICOS):c.*995C>T rs190590580 0.00677
NM_012092.4(ICOS):c.*1094C>T rs144036725 0.00599
NM_012092.4(ICOS):c.*1300C>T rs181937379 0.00360
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_020661.4(AICDA):c.*446G>A rs104894982 0.00275
NM_020661.4(AICDA):c.428-4_428-3insT rs755095913 0.00272
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_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_012092.4(ICOS):c.*1854G>A rs140979765 0.00184
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363 0.00140
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) rs149918318 0.00136
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_001250.6(CD40):c.*547A>T rs184942163 0.00129
NM_001770.6(CD19):c.1580-4C>A rs148808609 0.00128
NM_012092.4(ICOS):c.*1137C>T rs531066269 0.00123
NM_203447.4(DOCK8):c.-58C>T rs144097790 0.00122
NM_080911.3(UNG):c.*699T>C rs762462658 0.00119
NM_203447.4(DOCK8):c.*1014T>C rs530493285 0.00119
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=) rs140134223 0.00105
NM_203447.4(DOCK8):c.550G>A (p.Val184Met) rs143461644 0.00105
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe) rs142818579 0.00099
NM_080911.3(UNG):c.*109A>G rs533948770 0.00098
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_203447.4(DOCK8):c.*99G>A rs554634853 0.00083
NM_020661.4(AICDA):c.*67C>T rs149095678 0.00081
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_203447.4(DOCK8):c.541C>G (p.His181Asp) rs200684000 0.00070
NM_001770.6(CD19):c.836-13C>G rs371868433 0.00069
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183 0.00064
NM_012092.4(ICOS):c.375A>G (p.Gly125=) rs768500706 0.00064
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=) rs200884153 0.00058
NM_203447.4(DOCK8):c.2971-4G>A rs186097329 0.00057
NM_203447.4(DOCK8):c.5962-9T>C rs1324502895 0.00057
NM_203447.4(DOCK8):c.5155G>A (p.Ala1719Thr) rs144279637 0.00055
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_080911.3(UNG):c.*880A>T rs567806750 0.00052
NM_001250.6(CD40):c.*178G>A rs565941222 0.00051
NM_080911.3(UNG):c.194C>T (p.Pro65Leu) rs199956941 0.00051
NM_001250.6(CD40):c.*372A>C rs117490488 0.00050
NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys) rs140403518 0.00048
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_020661.4(AICDA):c.*1213A>G rs751259274 0.00045
NM_139276.2(STAT3):c.-195G>C rs780393027 0.00041
NM_203447.4(DOCK8):c.3067A>G (p.Ile1023Val) rs140148619 0.00041
NM_001770.6(CD19):c.*37A>G rs756122612 0.00040
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln) rs147287319 0.00040
NM_080911.3(UNG):c.183G>A (p.Pro61=) rs147490205 0.00038
NM_020661.4(AICDA):c.*235C>G rs112610523 0.00037
NM_020661.4(AICDA):c.*625T>C rs112850229 0.00036
NM_001770.6(CD19):c.*100T>C rs766679967 0.00035
NM_139276.3(STAT3):c.-140C>T rs528219097 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_001250.6(CD40):c.*677G>A rs370599881 0.00031
NM_139276.3(STAT3):c.*895A>G rs537640981 0.00030
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys) rs200899164 0.00030
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_000061.3(BTK):c.-105G>T rs1034801451 0.00028
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=) rs779365266 0.00027
NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=) rs144299704 0.00027
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) rs139990627 0.00026
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_203447.4(DOCK8):c.5818-13G>A rs368826292 0.00024
NM_203447.4(DOCK8):c.5892C>T (p.Asn1964=) rs138617736 0.00023
NM_006846.4(SPINK5):c.750C>T (p.Asp250=) rs199793551 0.00021
NM_203447.4(DOCK8):c.1979C>A (p.Ala660Asp) rs550289472 0.00021
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_139276.3(STAT3):c.*2144C>T rs886052932 0.00020
NM_001770.6(CD19):c.-16G>A rs201081926 0.00019
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=) rs767759337 0.00019
NM_203447.4(DOCK8):c.1683C>A (p.Asn561Lys) rs372278912 0.00019
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) rs150298985 0.00019
NM_203447.4(DOCK8):c.4241+12G>A rs371073556 0.00019
NM_001250.5(CD40):c.-61G>T rs542745249 0.00018
NM_020661.4(AICDA):c.*1173C>T rs192088951 0.00017
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=) rs371805226 0.00017
NM_203447.4(DOCK8):c.626G>A (p.Arg209Gln) rs151262535 0.00017
NM_020661.4(AICDA):c.*554T>C rs886049874 0.00016
NM_203447.4(DOCK8):c.5296C>T (p.Arg1766Trp) rs201776049 0.00016
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00015
NM_001250.6(CD40):c.750A>G (p.Pro250=) rs376780996 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_012092.4(ICOS):c.*399G>A rs760083763 0.00014
NM_020661.4(AICDA):c.*771T>A rs1189292106 0.00014
NM_203447.4(DOCK8):c.5139C>T (p.Asp1713=) rs568641163 0.00014
NM_203447.4(DOCK8):c.53+10C>T rs763565243 0.00014
NM_006846.4(SPINK5):c.*229A>C rs759149324 0.00013
NM_012092.4(ICOS):c.*1004C>G rs866710563 0.00013
NM_012092.4(ICOS):c.*1869A>C rs931854904 0.00013
NM_020661.4(AICDA):c.*670A>T rs886049873 0.00013
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) rs535305490 0.00013
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val) rs755658263 0.00013
NM_012092.4(ICOS):c.591G>A (p.Val197=) rs55655222 0.00012
NM_139276.3(STAT3):c.*1497G>A rs190710939 0.00012
NM_000061.3(BTK):c.*390G>A rs782012349 0.00011
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628 0.00011
NM_012092.4(ICOS):c.597A>G (p.Leu199=) rs145698501 0.00011
NM_139276.3(STAT3):c.*260G>A rs886052940 0.00011
NM_001770.6(CD19):c.171G>A (p.Pro57=) rs199665700 0.00010
NM_080911.3(UNG):c.*313C>G rs886048909 0.00010
NM_139276.3(STAT3):c.*1645C>T rs1055885995 0.00010
NM_203447.4(DOCK8):c.2393A>G (p.Lys798Arg) rs140546511 0.00010
NM_203447.4(DOCK8):c.53+11C>T rs764626266 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_006846.4(SPINK5):c.*301C>T rs187725907 0.00009
NM_203447.4(DOCK8):c.5266A>C (p.Ile1756Leu) rs373154957 0.00009
NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=) rs150524921 0.00009
NM_001770.6(CD19):c.323A>C (p.Gln108Pro) rs776903049 0.00008
NM_006846.4(SPINK5):c.1431-10T>G rs759079847 0.00008
NM_080911.3(UNG):c.*522A>G rs189054927 0.00008
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr) rs375665207 0.00008
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=) rs753242273 0.00008
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_006846.4(SPINK5):c.1607+7G>T rs541432320 0.00007
NM_006846.4(SPINK5):c.2239T>C (p.Leu747=) rs759451448 0.00007
NM_080911.3(UNG):c.*445C>T rs769388131 0.00007
NM_203447.4(DOCK8):c.4904A>G (p.Gln1635Arg) rs200869192 0.00007
NM_001250.6(CD40):c.*310C>G rs886056720 0.00006
NM_001250.6(CD40):c.498-7T>C rs745435992 0.00006
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg) rs765752936 0.00006
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667 0.00006
NM_006846.4(SPINK5):c.1820+11G>A rs796478719 0.00006
NM_012092.4(ICOS):c.*939A>G rs563893351 0.00006
NM_020661.4(AICDA):c.*1010C>T rs1018192148 0.00006
NM_080911.3(UNG):c.*573G>C rs1028482157 0.00006
NM_080911.3(UNG):c.*611C>T rs886048911 0.00006
NM_203447.4(DOCK8):c.1402G>A (p.Val468Ile) rs750286236 0.00006
NM_203447.4(DOCK8):c.1797+13A>C rs776147775 0.00006
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys) rs267602235 0.00006
NM_203447.4(DOCK8):c.3713G>A (p.Arg1238His) rs767874435 0.00006
NM_001250.6(CD40):c.*676C>T rs933970936 0.00005
NM_001250.6(CD40):c.622A>G (p.Ile208Val) rs199581355 0.00005
NM_001770.6(CD19):c.*151G>A rs879933623 0.00005
NM_006846.4(SPINK5):c.*90G>A rs978677310 0.00005
NM_012092.4(ICOS):c.*77C>T rs769887283 0.00005
NM_139276.3(STAT3):c.*607C>T rs969407289 0.00005
NM_203447.4(DOCK8):c.2087A>G (p.Asn696Ser) rs149521894 0.00005
NM_203447.4(DOCK8):c.5672G>A (p.Arg1891Gln) rs368477654 0.00005
NM_001250.6(CD40):c.*119C>T rs746182207 0.00004
NM_001250.6(CD40):c.*216A>C rs886056719 0.00004
NM_001250.6(CD40):c.249C>T (p.Cys83=) rs776893342 0.00004
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_006846.4(SPINK5):c.1129G>A (p.Gly377Arg) rs376109480 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 0.00004
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084 0.00004
NM_006846.4(SPINK5):c.606A>C (p.Leu202Phe) rs750627345 0.00004
NM_006846.4(SPINK5):c.834A>C (p.Gln278His) rs201354872 0.00004
NM_012092.4(ICOS):c.*512T>C rs577478606 0.00004
NM_020661.4(AICDA):c.*1296C>T rs748400078 0.00004
NM_020661.4(AICDA):c.*1684T>C rs1026369274 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_080911.3(UNG):c.81C>A (p.Ala27=) rs761928219 0.00004
NM_139276.3(STAT3):c.*1196T>C rs193126798 0.00004
NM_203447.4(DOCK8):c.*182T>C rs982509861 0.00004
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile) rs148994877 0.00004
NM_203447.4(DOCK8):c.1098G>A (p.Thr366=) rs139297216 0.00004
NM_203447.4(DOCK8):c.3414C>A (p.Phe1138Leu) rs781435688 0.00004
NM_203447.4(DOCK8):c.4024-6G>C rs555906969 0.00004
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met) rs151208894 0.00004
NM_203447.4(DOCK8):c.686C>A (p.Ala229Asp) rs745614955 0.00004
NM_001250.6(CD40):c.*338A>G rs886056721 0.00003
NM_001250.6(CD40):c.444C>T (p.Val148=) rs745496687 0.00003
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_006846.4(SPINK5):c.*78A>G rs774183421 0.00003
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn) rs754319450 0.00003
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659 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_080911.3(UNG):c.*111A>T rs770692724 0.00003
NM_080911.3(UNG):c.36C>A (p.Ser12=) rs772832695 0.00003
NM_139276.2(STAT3):c.-211G>T rs902564848 0.00003
NM_139276.3(STAT3):c.*165T>G rs930137822 0.00003
NM_139276.3(STAT3):c.*1970A>G rs1475716153 0.00003
NM_139276.3(STAT3):c.*2002G>A rs531760487 0.00003
NM_139276.3(STAT3):c.-162A>G rs886052945 0.00003
NM_203447.4(DOCK8):c.*407C>T rs886063983 0.00003
NM_203447.4(DOCK8):c.*847A>G rs924532099 0.00003
NM_203447.4(DOCK8):c.1656A>G (p.Val552=) rs150595667 0.00003
NM_203447.4(DOCK8):c.1817G>A (p.Ser606Asn) rs778451048 0.00003
NM_203447.4(DOCK8):c.2438C>T (p.Thr813Ile) rs762799448 0.00003
NM_203447.4(DOCK8):c.2719G>A (p.Asp907Asn) rs756707690 0.00003
NM_203447.4(DOCK8):c.277G>T (p.Val93Leu) rs375686155 0.00003
NM_203447.4(DOCK8):c.2937C>G (p.Val979=) rs751748445 0.00003
NM_203447.4(DOCK8):c.3193C>T (p.Arg1065Trp) rs146891937 0.00003
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val) rs886063779 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_006846.4(SPINK5):c.1772T>C (p.Leu591Pro) rs775502935 0.00002
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=) rs773053071 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe) rs759053532 0.00002
NM_012092.4(ICOS):c.*594C>T rs1391651175 0.00002
NM_012092.4(ICOS):c.*73T>C rs756570847 0.00002
NM_020661.4(AICDA):c.376C>T (p.Leu126=) rs999930122 0.00002
NM_020661.4(AICDA):c.569G>A (p.Arg190Gln) rs747680644 0.00002
NM_080911.3(UNG):c.769T>C (p.Tyr257His) rs769188214 0.00002
NM_203447.4(DOCK8):c.*150A>T rs886063981 0.00002
NM_203447.4(DOCK8):c.*344A>G rs1409715154 0.00002
NM_203447.4(DOCK8):c.2593G>A (p.Val865Met) rs770643758 0.00002
NM_203447.4(DOCK8):c.2946T>C (p.Tyr982=) rs762327114 0.00002
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser) rs527474230 0.00002
NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=) rs377297446 0.00002
NM_203447.4(DOCK8):c.4148C>G (p.Ala1383Gly) rs745583957 0.00002
NM_203447.4(DOCK8):c.5408A>C (p.Lys1803Thr) rs534744136 0.00002
NM_203447.4(DOCK8):c.578C>G (p.Pro193Arg) rs971992611 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_001250.6(CD40):c.*560C>T rs1185046356 0.00001
NM_001250.6(CD40):c.256+8C>T rs775430615 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_006846.4(SPINK5):c.1194C>T (p.Asn398=) rs750608792 0.00001
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421 0.00001
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile) rs1431258015 0.00001
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr) rs1212563023 0.00001
NM_006846.4(SPINK5):c.2964+14T>G rs1017737800 0.00001
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=) rs571812048 0.00001
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys) rs757745500 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_020661.4(AICDA):c.*1025G>A rs1941216576 0.00001
NM_020661.4(AICDA):c.-87A>T rs1941389378 0.00001
NM_020661.4(AICDA):c.29A>G (p.Lys10Arg) rs768249578 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_080911.3(UNG):c.*2C>A rs767818599 0.00001
NM_080911.3(UNG):c.*655A>C rs775022596 0.00001
NM_080911.3(UNG):c.-73C>T rs886048904 0.00001
NM_080911.3(UNG):c.231C>G (p.Asn77Lys) rs762261195 0.00001
NM_080911.3(UNG):c.623-9T>A rs745983593 0.00001
NM_080911.3(UNG):c.65C>T (p.Pro22Leu) rs373668102 0.00001
NM_080911.3(UNG):c.6C>A (p.Ile2=) rs886048905 0.00001
NM_080911.3(UNG):c.812A>G (p.His271Arg) rs147460908 0.00001
NM_080911.3(UNG):c.86A>C (p.Gln29Pro) rs765512122 0.00001
NM_139276.3(STAT3):c.*1011A>G rs1321545484 0.00001
NM_139276.3(STAT3):c.*594G>A rs1405453923 0.00001
NM_139276.3(STAT3):c.-55C>G rs886052944 0.00001
NM_139276.3(STAT3):c.1050G>A (p.Arg350=) rs771738153 0.00001
NM_139276.3(STAT3):c.657T>C (p.Ser219=) rs886052943 0.00001
NM_203447.4(DOCK8):c.*603T>C rs886063984 0.00001
NM_203447.4(DOCK8):c.-100T>A rs886063778 0.00001
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn) rs374938180 0.00001
NM_203447.4(DOCK8):c.156+7A>G rs991177118 0.00001
NM_203447.4(DOCK8):c.1649G>A (p.Arg550Gln) rs886063879 0.00001
NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala) rs764950936 0.00001
NM_203447.4(DOCK8):c.2713A>T (p.Asn905Tyr) rs1407788035 0.00001
NM_203447.4(DOCK8):c.4252G>A (p.Glu1418Lys) rs764918764 0.00001
NM_203447.4(DOCK8):c.447A>G (p.Gly149=) rs763034264 0.00001
NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=) rs886063957 0.00001
NM_203447.4(DOCK8):c.4785+8G>A rs759399965 0.00001
NM_203447.4(DOCK8):c.492G>C (p.Glu164Asp) rs772188486 0.00001
NM_203447.4(DOCK8):c.5221A>G (p.Thr1741Ala) rs943721536 0.00001
NM_203447.4(DOCK8):c.5288G>A (p.Arg1763Gln) rs751622919 0.00001
NM_203447.4(DOCK8):c.529-10T>C rs757276569 0.00001
NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser) rs766493394 0.00001
NM_203447.4(DOCK8):c.5904T>A (p.Pro1968=) rs182402358 0.00001
NM_203447.4(DOCK8):c.828-15C>G rs773615177 0.00001
NM_000061.3(BTK):c.-87C>T rs1927601892
NM_001250.5(CD40):c.-55C>G rs573086622
NM_001250.5(CD40):c.-67G>T rs575088069
NM_001250.6(CD40):c.*85G>T rs886056718
NM_001250.6(CD40):c.311C>T (p.Thr104Ile) rs1171596083
NM_001250.6(CD40):c.339T>C (p.Ser113=) rs886056717
NM_001250.6(CD40):c.379C>T (p.Pro127Ser) rs2085343720
NM_001250.6(CD40):c.397C>T (p.Gln133Ter) rs1460849632
NM_001250.6(CD40):c.647-4_647-3dup rs749590513
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_003998.4(NFKB1):c.724G>C (p.Asp242His) rs2149184850
NM_005026.5(PIK3CD):c.1579G>A (p.Glu527Lys) rs749871179
NM_006846.4(SPINK5):c.-10C>T rs778902700
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn) rs1266893770
NM_006846.4(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.4(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg) rs770045852
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro) rs1754030459
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile) rs1398660016
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) rs1452834406
NM_006846.4(SPINK5):c.2666+4C>T rs376671081
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser) rs1483638724
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp) rs192473184
NM_006846.4(SPINK5):c.628C>A (p.Arg210=) rs535512727
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn) rs755830397
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_020661.4(AICDA):c.*1083T>C rs886049870
NM_020661.4(AICDA):c.*1106A>G rs886049869
NM_020661.4(AICDA):c.*1138A>G rs7138990
NM_020661.4(AICDA):c.*1226A>C rs887527114
NM_020661.4(AICDA):c.*1262C>T rs886049868
NM_020661.4(AICDA):c.*1313G>C rs1941208167
NM_020661.4(AICDA):c.*1380A>G rs1286233476
NM_020661.4(AICDA):c.*1453A>G rs1188858698
NM_020661.4(AICDA):c.*1455G>A rs187473552
NM_020661.4(AICDA):c.*1802T>C rs1941199404
NM_020661.4(AICDA):c.*288C>T rs886049875
NM_020661.4(AICDA):c.*38T>G rs115089086
NM_020661.4(AICDA):c.*556T>G rs3205190
NM_020661.4(AICDA):c.*804A>T rs886049872
NM_020661.4(AICDA):c.*837A>G rs886049871
NM_020661.4(AICDA):c.428-17_428-16dup rs5796316
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_080911.3(UNG):c.*1018A>G rs538993598
NM_080911.3(UNG):c.*129C>T rs2042250000
NM_080911.3(UNG):c.*159G>A rs886048907
NM_080911.3(UNG):c.*281C>T rs886048908
NM_080911.3(UNG):c.*376C>G rs2042251751
NM_080911.3(UNG):c.*500C>G rs780337127
NM_080911.3(UNG):c.*537G>A rs886048910
NM_080911.3(UNG):c.*545A>G rs562354759
NM_080911.3(UNG):c.*705T>C rs990568930
NM_080911.3(UNG):c.*719G>A rs886048912
NM_080911.3(UNG):c.*858T>G rs914567653
NM_080911.3(UNG):c.*866AT[5] rs56185014
NM_080911.3(UNG):c.-50G>A rs370117219
NM_080911.3(UNG):c.-51A>G rs375712849
NM_080911.3(UNG):c.-51A>T rs375712849
NM_080911.3(UNG):c.100G>A (p.Ala34Thr) rs886048906
NM_080911.3(UNG):c.204C>G (p.Ala68=) rs777436497
NM_080911.3(UNG):c.204C>T (p.Ala68=) rs777436497
NM_080911.3(UNG):c.435+15T>A rs765672149
NM_080911.3(UNG):c.544A>G (p.Ile182Val) rs545691651
NM_080911.3(UNG):c.660C>T (p.Ala220=) rs572632781
NM_080911.3(UNG):c.664C>G (p.Gln222Glu) rs2042193896
NM_080911.3(UNG):c.825G>A (p.Thr275=) rs765151419
NM_139276.2(STAT3):c.-226C>T rs1567768628
NM_139276.3(STAT3):c.*1082G>A rs184030721
NM_139276.3(STAT3):c.*1266G>A rs886052938
NM_139276.3(STAT3):c.*1270C>T rs886052937
NM_139276.3(STAT3):c.*1415C>G rs886052936
NM_139276.3(STAT3):c.*1673C>T rs886052935
NM_139276.3(STAT3):c.*1675T>C rs886052934
NM_139276.3(STAT3):c.*1850C>G rs886052933
NM_139276.3(STAT3):c.*1850C>T rs886052933
NM_139276.3(STAT3):c.*1891C>T rs1240359704
NM_139276.3(STAT3):c.*2255G>T rs886052931
NM_139276.3(STAT3):c.*2340dup rs886052930
NM_139276.3(STAT3):c.*2343_*2344del rs886052928
NM_139276.3(STAT3):c.*2343del rs886052929
NM_139276.3(STAT3):c.*608A>G rs2081203585
NM_139276.3(STAT3):c.*646T>C rs886052939
NM_139276.3(STAT3):c.*893dup rs754306251
NM_139276.3(STAT3):c.*894del rs373212106
NM_139276.3(STAT3):c.-139G>A rs17883843
NM_139276.3(STAT3):c.-157A>G rs1170853204
NM_139276.3(STAT3):c.-69C>T rs994095771
NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp) rs886052942
NM_139276.3(STAT3):c.1428C>T (p.Ser476=) rs369714894
NM_139276.3(STAT3):c.1963A>T (p.Met655Leu) rs2081520804
NM_139276.3(STAT3):c.2216A>G (p.Asn739Ser) rs886052941
NM_139276.3(STAT3):c.249A>G (p.Leu83=) rs2082709923
NM_139276.3(STAT3):c.311T>C (p.Ile104Thr) rs2082662438
NM_203447.4(DOCK8):c.*1031G>A rs149002313
NM_203447.4(DOCK8):c.*195G>C rs184727169
NM_203447.4(DOCK8):c.*204C>A rs569685446
NM_203447.4(DOCK8):c.*366C>T rs886063982
NM_203447.4(DOCK8):c.*754T>C rs2057925428
NM_203447.4(DOCK8):c.*88C>G rs2057905960
NM_203447.4(DOCK8):c.*990T>C rs1057515587
NM_203447.4(DOCK8):c.-105G>T rs886063777
NM_203447.4(DOCK8):c.1044+13G>T rs754374567
NM_203447.4(DOCK8):c.1286G>A (p.Gly429Glu) rs776197556
NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr) rs531279290
NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe) rs531279290
NM_203447.4(DOCK8):c.1619C>G (p.Pro540Arg) rs377334031
NM_203447.4(DOCK8):c.1782T>C (p.Ala594=) rs748721463
NM_203447.4(DOCK8):c.1970A>G (p.Lys657Arg) rs2053285384
NM_203447.4(DOCK8):c.2138A>G (p.Lys713Arg) rs2053510818
NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser) rs886063849
NM_203447.4(DOCK8):c.2428G>A (p.Ala810Thr) rs752978895
NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr) rs141451302
NM_203447.4(DOCK8):c.2527G>A (p.Gly843Arg) rs886063934
NM_203447.4(DOCK8):c.2558A>G (p.His853Arg) rs2053670978
NM_203447.4(DOCK8):c.2605+14G>C rs886063935
NM_203447.4(DOCK8):c.2631T>G (p.Pro877=) rs2053764476
NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=) rs781062154
NM_203447.4(DOCK8):c.3234+15dup rs375864618
NM_203447.4(DOCK8):c.3531-10G>C rs760907119
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu) rs566738926
NM_203447.4(DOCK8):c.3790G>T (p.Ala1264Ser) rs886063955
NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser) rs150057289
NM_203447.4(DOCK8):c.536C>T (p.Pro179Leu) rs772181121
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) rs775544616
NM_203447.4(DOCK8):c.5585A>G (p.Tyr1862Cys) rs752479766
NM_203447.4(DOCK8):c.5825T>C (p.Leu1942Ser) rs1245745138
NM_203447.4(DOCK8):c.5881G>C (p.Val1961Leu) rs2057374290
NM_203447.4(DOCK8):c.605G>T (p.Arg202Leu) rs374288188
NM_203447.4(DOCK8):c.6068+11A>C rs886063964
NM_203447.4(DOCK8):c.6098G>T (p.Arg2033Leu) rs558033558
NM_203447.4(DOCK8):c.6186G>A (p.Glu2062=) rs2057877910
NM_203447.4(DOCK8):c.698A>T (p.Asn233Ile) rs576266303
NM_203447.4(DOCK8):c.701G>A (p.Arg234Lys) rs2050147330
NM_203447.4(DOCK8):c.72A>G (p.Ile24Met) rs531628086
NM_203447.4(DOCK8):c.760C>T (p.Arg254Cys) rs1227911560
NM_203447.4(DOCK8):c.841A>G (p.Ile281Val) rs1412000721
NM_203447.4(DOCK8):c.955C>T (p.His319Tyr) rs2050845211

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