ClinVar Miner

List of variants reported as benign 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: 170
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_203447.4(DOCK8):c.*701G>A rs3780338 0.81268
NM_001250.6(CD40):c.-1T>C rs1883832 0.79882
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_139276.3(STAT3):c.*1671C>T rs1053004 0.48332
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_006846.4(SPINK5):c.*208C>G rs3088193 0.43751
NM_006846.4(SPINK5):c.*361_*363dup rs397704765 0.43679
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_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
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_139276.3(STAT3):c.*1325A>G rs3744483 0.26908
NM_139276.3(STAT3):c.*2147A>G rs1053023 0.26115
NM_139276.3(STAT3):c.*1853A>G rs1053005 0.25080
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_020661.4(AICDA):c.*89A>C rs11046349 0.23977
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_012092.4(ICOS):c.*1773G>C rs4675379 0.14872
NM_203447.4(DOCK8):c.1692T>C (p.Tyr564=) rs10972587 0.13521
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_020661.4(AICDA):c.*309T>C rs12307097 0.11052
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_006846.4(SPINK5):c.*330T>C rs72660265 0.09913
NM_203447.4(DOCK8):c.-69T>C rs62533313 0.09752
NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=) rs10491684 0.09400
NM_020661.4(AICDA):c.*1028C>T rs7304723 0.09017
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_203447.4(DOCK8):c.1790C>T (p.Ala597Val) rs17673268 0.07826
NM_203447.4(DOCK8):c.*112T>C rs10974618 0.07359
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_006846.4(SPINK5):c.1344G>A (p.Arg448=) rs17107741 0.05403
NM_006846.4(SPINK5):c.-61A>C rs74572734 0.04900
NM_006846.4(SPINK5):c.209+15C>T rs3752677 0.04511
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_006846.4(SPINK5):c.2965-10G>C rs58888156 0.04288
NM_001250.6(CD40):c.606C>T (p.Phe202=) rs7273698 0.04254
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) rs11569321 0.04146
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_020661.4(AICDA):c.*1297G>A rs140765460 0.03904
NM_012092.4(ICOS):c.*33T>C rs73058105 0.03775
NM_001250.6(CD40):c.*135C>G rs11569343 0.03655
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_006846.4(SPINK5):c.*59C>T rs73794699 0.03338
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631 0.03284
NM_203447.4(DOCK8):c.2295C>T (p.Ser765=) rs12348944 0.03237
NM_139276.3(STAT3):c.*584T>G rs11079042 0.03176
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_203447.4(DOCK8):c.5818-14C>T rs10124592 0.02927
NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=) rs7034926 0.02921
NM_006846.4(SPINK5):c.531G>A (p.Arg177=) rs35121983 0.02736
NM_000061.3(BTK):c.*334T>G rs183674618 0.02721
NM_203447.4(DOCK8):c.*743C>T rs117155264 0.02684
NM_012092.4(ICOS):c.*1095A>G rs73991307 0.02660
NM_012092.4(ICOS):c.*855T>C rs73991306 0.02657
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_020661.4(AICDA):c.*1694A>G rs75351379 0.02262
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_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_080911.3(UNG):c.759C>G (p.Leu253=) rs76391872 0.02053
NM_139276.3(STAT3):c.*1517G>A rs75454844 0.01966
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_080911.3(UNG):c.*1013T>A rs3219275 0.01781
NM_001250.6(CD40):c.*316G>C rs11569344 0.01767
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) rs11086998 0.01523
NM_020661.4(AICDA):c.*1666G>T rs115523544 0.01479
NM_020661.4(AICDA):c.*1206C>T rs147762245 0.01472
NM_006846.4(SPINK5):c.119G>C (p.Gly40Ala) rs73269156 0.01335
NM_020661.4(AICDA):c.*718C>A rs74372815 0.01333
NM_203447.4(DOCK8):c.528+13A>G rs116483820 0.01176
NM_006846.4(SPINK5):c.2754A>G (p.Glu918=) rs114635730 0.01171
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala) rs115820034 0.01140
NM_203447.4(DOCK8):c.2739C>T (p.Ser913=) rs116523732 0.01126
NM_203447.4(DOCK8):c.5001C>T (p.His1667=) rs35662752 0.01091
NM_203447.4(DOCK8):c.*867C>T rs12067 0.01074
NM_006846.4(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632 0.01067
NM_006846.4(SPINK5):c.3186+8C>T rs115366845 0.01052
NM_203447.4(DOCK8):c.3441C>T (p.Phe1147=) rs34621129 0.01036
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) rs34098809 0.00985
NM_203447.4(DOCK8):c.*757T>G rs116697485 0.00922
NM_139276.3(STAT3):c.1654-11C>G rs17882035 0.00917
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_203447.4(DOCK8):c.2971-14A>G rs140114637 0.00841
NM_139276.3(STAT3):c.*1931A>G rs138326799 0.00808
NM_001250.5(CD40):c.-41C>T rs11569301 0.00774
NM_006846.4(SPINK5):c.2895G>A (p.Lys965=) rs34966234 0.00755
NM_203447.4(DOCK8):c.*845T>C rs10157 0.00683
NM_006846.4(SPINK5):c.-19G>A rs12522603 0.00660
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_080911.3(UNG):c.291C>T (p.Ser97=) rs3219210 0.00624
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) rs117610764 0.00615
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_139276.3(STAT3):c.*669C>T rs138998960 0.00592
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=) rs140431229 0.00514
NM_139276.3(STAT3):c.*582A>T rs115090026 0.00503
NM_203447.4(DOCK8):c.5187A>G (p.Val1729=) rs111535933 0.00493
NM_203447.4(DOCK8):c.*258T>C rs145094924 0.00421
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932 0.00387
NM_139276.3(STAT3):c.*1383G>C rs183293865 0.00366
NM_006846.4(SPINK5):c.1128C>T (p.Asn376=) rs78128189 0.00360
NM_000061.3(BTK):c.*221G>T rs1122765 0.00340
NM_006846.4(SPINK5):c.2061G>A (p.Gln687=) rs36111383 0.00336
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_203447.4(DOCK8):c.1587C>G (p.Pro529=) rs146289269 0.00296
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_139276.3(STAT3):c.*211A>C rs41289087 0.00248
NM_139276.3(STAT3):c.*730G>A rs555637030 0.00120
NM_020661.4(AICDA):c.*1089C>T rs141460280 0.00097
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) rs117691970 0.00089
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys) rs76276364 0.00068
NM_139276.3(STAT3):c.*402G>A rs186798539 0.00050
NM_139276.3(STAT3):c.*1316A>G rs552123985 0.00033
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665 0.00027
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_080911.3(UNG):c.528G>A (p.Pro176=) rs373915335 0.00014
NM_139276.3(STAT3):c.405C>T (p.Ala135=) rs201846078 0.00008
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) rs200529713 0.00006
NM_139276.3(STAT3):c.*1125G>A rs377364072 0.00005
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_001770.6(CD19):c.705G>T (p.Pro235=) rs35979293
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_012092.4(ICOS):c.501+6C>T rs4264550
NM_020661.4(AICDA):c.*38T>C rs115089086
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_203447.3(DOCK8):c.-113C>T rs2236547
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045

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