ClinVar Miner

List of variants studied for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 482
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HGVS dbSNP gnomAD frequency
NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr) rs375947 0.29555
NM_005535.3(IL12RB1):c.1132G>C (p.Gly378Arg) rs401502 0.28523
NM_005535.3(IL12RB1):c.*34C>T rs3746190 0.28316
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_005535.3(IL12RB1):c.-111A>T rs393548 0.21469
NM_005535.3(IL12RB1):c.-2C>T rs436857 0.17226
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.12190
NM_005535.3(IL12RB1):c.387G>C (p.Val129=) rs11086087 0.09792
NM_005535.3(IL12RB1):c.139C>T (p.Pro47Ser) rs17887176 0.01431
NM_005535.3(IL12RB1):c.102G>A (p.Pro34=) rs146978336 0.00638
NM_005535.3(IL12RB1):c.1242C>T (p.Tyr414=) rs376271 0.00605
NM_005535.3(IL12RB1):c.848G>A (p.Arg283Gln) rs117511121 0.00605
NM_005535.3(IL12RB1):c.1149C>T (p.Cys383=) rs17882216 0.00576
NM_005535.3(IL12RB1):c.783+10C>T rs79972275 0.00537
NM_005535.3(IL12RB1):c.581-18C>T rs78041096 0.00522
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935 0.00494
NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=) rs17885102 0.00316
NM_005535.3(IL12RB1):c.1584G>A (p.Arg528=) rs141968777 0.00313
NM_005535.3(IL12RB1):c.180C>T (p.Tyr60=) rs146102898 0.00243
NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=) rs61734350 0.00234
NM_005535.3(IL12RB1):c.602A>C (p.Glu201Ala) rs139505765 0.00233
NM_005535.3(IL12RB1):c.1813G>T (p.Val605Leu) rs145590794 0.00216
NM_005535.3(IL12RB1):c.222C>G (p.Ser74Arg) rs11575925 0.00200
NM_005535.3(IL12RB1):c.124+14C>T rs113221245 0.00199
NM_005535.3(IL12RB1):c.1017C>G (p.His339Gln) rs17884957 0.00181
NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=) rs199686420 0.00129
NM_005535.3(IL12RB1):c.1056C>T (p.Asn352=) rs61734349 0.00126
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802 0.00123
NM_005535.3(IL12RB1):c.271G>A (p.Ala91Thr) rs147215816 0.00109
NM_005535.3(IL12RB1):c.*30C>T rs188415514 0.00108
NM_005535.3(IL12RB1):c.273C>T (p.Ala91=) rs138087003 0.00079
NM_005535.3(IL12RB1):c.1483+4C>T rs768159975 0.00068
NM_005535.3(IL12RB1):c.1295C>T (p.Thr432Met) rs200875188 0.00061
NM_005535.3(IL12RB1):c.1768A>T (p.Ile590Phe) rs186935027 0.00060
NM_005535.3(IL12RB1):c.1451G>A (p.Arg484His) rs199661046 0.00057
NM_005535.3(IL12RB1):c.1327+9C>A rs185883069 0.00049
NM_005535.3(IL12RB1):c.1960G>A (p.Asp654Asn) rs202106699 0.00046
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=) rs371461366 0.00042
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=) rs373545812 0.00037
NM_005535.3(IL12RB1):c.1879G>A (p.Glu627Lys) rs143367415 0.00035
NM_005535.3(IL12RB1):c.1347G>A (p.Pro449=) rs370396845 0.00033
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=) rs144647048 0.00032
NM_005535.3(IL12RB1):c.-51C>T rs373990244 0.00031
NM_005535.3(IL12RB1):c.695C>T (p.Pro232Leu) rs147436538 0.00031
NM_005535.3(IL12RB1):c.1781G>A (p.Gly594Glu) rs370238890 0.00029
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=) rs201723337 0.00029
NM_005535.3(IL12RB1):c.1791+9G>A rs182660189 0.00026
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg) rs200811721 0.00021
NM_005535.3(IL12RB1):c.772C>G (p.Leu258Val) rs138189707 0.00021
NM_005535.3(IL12RB1):c.1128G>A (p.Gln376=) rs183211050 0.00020
NM_005535.3(IL12RB1):c.824C>T (p.Ala275Val) rs201831465 0.00020
NM_005535.3(IL12RB1):c.581-17G>A rs370354493 0.00019
NM_005535.3(IL12RB1):c.833C>T (p.Thr278Met) rs201223132 0.00019
NM_005535.3(IL12RB1):c.1344A>C (p.Thr448=) rs548785822 0.00018
NM_005535.3(IL12RB1):c.1734C>T (p.Cys578=) rs535844841 0.00017
NM_005535.3(IL12RB1):c.420G>C (p.Glu140Asp) rs368411705 0.00017
NM_005535.3(IL12RB1):c.735G>A (p.Val245=) rs17878522 0.00017
NM_005535.3(IL12RB1):c.209C>T (p.Thr70Ile) rs950913087 0.00016
NM_005535.3(IL12RB1):c.712C>G (p.Gln238Glu) rs200977237 0.00016
NM_005535.3(IL12RB1):c.131C>T (p.Ala44Val) rs372265041 0.00014
NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=) rs368969256 0.00014
NM_005535.3(IL12RB1):c.731C>T (p.Ser244Leu) rs200203598 0.00014
NM_005535.3(IL12RB1):c.1081C>A (p.Arg361=) rs150261140 0.00013
NM_005535.3(IL12RB1):c.1190-13C>T rs371881148 0.00011
NM_005535.3(IL12RB1):c.1269C>T (p.His423=) rs367647802 0.00011
NM_005535.3(IL12RB1):c.1429G>A (p.Val477Ile) rs142884929 0.00011
NM_005535.3(IL12RB1):c.279A>G (p.Ser93=) rs138099877 0.00011
NM_005535.3(IL12RB1):c.500G>A (p.Gly167Asp) rs573390658 0.00011
NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter) rs121434492 0.00011
NM_005535.3(IL12RB1):c.958T>C (p.Ser320Pro) rs141507253 0.00011
NM_005535.3(IL12RB1):c.700+3A>T rs781118937 0.00010
NM_005535.3(IL12RB1):c.1262C>T (p.Ser421Phe) rs201548803 0.00009
NM_005535.3(IL12RB1):c.128C>T (p.Ser43Leu) rs189309495 0.00009
NM_005535.3(IL12RB1):c.1384G>T (p.Val462Leu) rs758591255 0.00009
NM_005535.3(IL12RB1):c.300C>T (p.Ser100=) rs147419888 0.00009
NM_005535.3(IL12RB1):c.309T>C (p.Ala103=) rs369830496 0.00009
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala) rs150285174 0.00009
NM_005535.3(IL12RB1):c.638G>A (p.Arg213Gln) rs769192415 0.00009
NM_005535.3(IL12RB1):c.784-20G>A rs756123534 0.00009
NM_005535.3(IL12RB1):c.597C>A (p.Pro199=) rs141341557 0.00008
NM_005535.3(IL12RB1):c.1428C>T (p.Gly476=) rs774098396 0.00007
NM_005535.3(IL12RB1):c.1770T>G (p.Ile590Met) rs201846511 0.00007
NM_005535.3(IL12RB1):c.284C>T (p.Thr95Ile) rs778062013 0.00007
NM_005535.3(IL12RB1):c.596C>G (p.Pro199Arg) rs201652727 0.00007
NM_005535.3(IL12RB1):c.612G>A (p.Val204=) rs142934088 0.00007
NM_005535.3(IL12RB1):c.61G>A (p.Gly21Ser) rs758204377 0.00007
NM_005535.3(IL12RB1):c.701-6T>C rs374699716 0.00007
NM_005535.3(IL12RB1):c.1058G>A (p.Gly353Glu) rs111768826 0.00006
NM_005535.3(IL12RB1):c.110C>T (p.Pro37Leu) rs142484991 0.00006
NM_005535.3(IL12RB1):c.1312C>T (p.His438Tyr) rs375654921 0.00006
NM_005535.3(IL12RB1):c.1606C>T (p.Arg536Cys) rs377695964 0.00006
NM_005535.3(IL12RB1):c.176G>A (p.Arg59His) rs142273743 0.00006
NM_005535.3(IL12RB1):c.1791+2T>G rs554063682 0.00006
NM_005535.3(IL12RB1):c.240-18C>A rs377066020 0.00006
NM_005535.3(IL12RB1):c.518G>A (p.Arg173Gln) rs756272570 0.00006
NM_005535.3(IL12RB1):c.552C>T (p.Gly184=) rs193097863 0.00006
NM_005535.3(IL12RB1):c.699T>C (p.Pro233=) rs762184085 0.00006
NM_005535.3(IL12RB1):c.962C>T (p.Ser321Leu) rs147766868 0.00006
NM_005535.3(IL12RB1):c.1358C>T (p.Ser453Leu) rs560384669 0.00005
NM_005535.3(IL12RB1):c.1457G>A (p.Arg486Gln) rs369576406 0.00005
NM_005535.3(IL12RB1):c.370G>A (p.Glu124Lys) rs772617080 0.00005
NM_005535.3(IL12RB1):c.545A>G (p.Lys182Arg) rs941112862 0.00005
NM_005535.3(IL12RB1):c.733G>T (p.Val245Leu) rs771248620 0.00005
NM_005535.3(IL12RB1):c.1082G>A (p.Arg361Gln) rs774168858 0.00004
NM_005535.3(IL12RB1):c.1131C>T (p.Asp377=) rs371543581 0.00004
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=) rs145095951 0.00004
NM_005535.3(IL12RB1):c.1222A>G (p.Met408Val) rs780762892 0.00004
NM_005535.3(IL12RB1):c.1265C>T (p.Ala422Val) rs767846981 0.00004
NM_005535.3(IL12RB1):c.1531C>T (p.Arg511Trp) rs373972439 0.00004
NM_005535.3(IL12RB1):c.1619-6C>T rs530116677 0.00004
NM_005535.3(IL12RB1):c.1715+9C>T rs962386763 0.00004
NM_005535.3(IL12RB1):c.1736C>T (p.Pro579Leu) rs751652957 0.00004
NM_005535.3(IL12RB1):c.1739C>T (p.Pro580Leu) rs763499409 0.00004
NM_005535.3(IL12RB1):c.181G>A (p.Glu61Lys) rs117720235 0.00004
NM_005535.3(IL12RB1):c.267C>T (p.Phe89=) rs375546243 0.00004
NM_005535.3(IL12RB1):c.274G>A (p.Gly92Ser) rs776835424 0.00004
NM_005535.3(IL12RB1):c.558C>T (p.Cys186=) rs777777175 0.00004
NM_005535.3(IL12RB1):c.55A>G (p.Arg19Gly) rs746501773 0.00004
NM_005535.3(IL12RB1):c.101C>T (p.Pro34Leu) rs113524129 0.00003
NM_005535.3(IL12RB1):c.1164G>A (p.Pro388=) rs761031233 0.00003
NM_005535.3(IL12RB1):c.1178C>T (p.Pro393Leu) rs748284308 0.00003
NM_005535.3(IL12RB1):c.134C>T (p.Ser45Leu) rs150070244 0.00003
NM_005535.3(IL12RB1):c.135G>A (p.Ser45=) rs755140822 0.00003
NM_005535.3(IL12RB1):c.1484A>G (p.Glu495Gly) rs773049771 0.00003
NM_005535.3(IL12RB1):c.1550C>T (p.Thr517Met) rs372578469 0.00003
NM_005535.3(IL12RB1):c.1588G>A (p.Val530Ile) rs781478903 0.00003
NM_005535.3(IL12RB1):c.1617C>T (p.Ile539=) rs778430238 0.00003
NM_005535.3(IL12RB1):c.1866C>G (p.Ser622=) rs766616130 0.00003
NM_005535.3(IL12RB1):c.249C>T (p.Ser83=) rs778113117 0.00003
NM_005535.3(IL12RB1):c.250G>A (p.Gly84Arg) rs757986795 0.00003
NM_005535.3(IL12RB1):c.268G>A (p.Ala90Thr) rs144128347 0.00003
NM_005535.3(IL12RB1):c.29C>A (p.Pro10His) rs745474746 0.00003
NM_005535.3(IL12RB1):c.517C>T (p.Arg173Trp) rs144702323 0.00003
NM_005535.3(IL12RB1):c.637C>T (p.Arg213Trp) rs121434494 0.00003
NM_005535.3(IL12RB1):c.768G>A (p.Leu256=) rs747607053 0.00003
NM_005535.3(IL12RB1):c.783+5C>T rs995616064 0.00003
NM_005535.3(IL12RB1):c.875C>T (p.Pro292Leu) rs149896994 0.00003
NM_005535.3(IL12RB1):c.1138C>A (p.Leu380Ile) rs373076771 0.00002
NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=) rs772239442 0.00002
NM_005535.3(IL12RB1):c.1229A>C (p.Gln410Pro) rs777395626 0.00002
NM_005535.3(IL12RB1):c.1254C>A (p.Ile418=) rs1285701884 0.00002
NM_005535.3(IL12RB1):c.1359G>A (p.Ser453=) rs377432757 0.00002
NM_005535.3(IL12RB1):c.1398G>A (p.Trp466Ter) rs754993079 0.00002
NM_005535.3(IL12RB1):c.1415G>A (p.Ser472Asn) rs369482167 0.00002
NM_005535.3(IL12RB1):c.143G>A (p.Arg48Lys) rs750798813 0.00002
NM_005535.3(IL12RB1):c.1456C>T (p.Arg486Ter) rs576374797 0.00002
NM_005535.3(IL12RB1):c.1479G>A (p.Val493=) rs750854689 0.00002
NM_005535.3(IL12RB1):c.161G>A (p.Arg54Gln) rs377441024 0.00002
NM_005535.3(IL12RB1):c.1653C>T (p.Ala551=) rs768958730 0.00002
NM_005535.3(IL12RB1):c.1740G>A (p.Pro580=) rs775800683 0.00002
NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=) rs759839534 0.00002
NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=) rs886054300 0.00002
NM_005535.3(IL12RB1):c.416A>G (p.Tyr139Cys) rs752537440 0.00002
NM_005535.3(IL12RB1):c.524G>A (p.Arg175Gln) rs781095220 0.00002
NM_005535.3(IL12RB1):c.548T>C (p.Leu183Ser) rs200328413 0.00002
NM_005535.3(IL12RB1):c.561A>T (p.Gly187=) rs200542111 0.00002
NM_005535.3(IL12RB1):c.751G>A (p.Asp251Asn) rs938796180 0.00002
NM_005535.3(IL12RB1):c.800T>C (p.Leu267Pro) rs200508693 0.00002
NM_005535.3(IL12RB1):c.891C>T (p.Ala297=) rs548747269 0.00002
NM_005535.3(IL12RB1):c.923A>G (p.Tyr308Cys) rs192185254 0.00002
NM_005535.3(IL12RB1):c.1014C>A (p.Thr338=) rs751281265 0.00001
NM_005535.3(IL12RB1):c.1047C>T (p.Val349=) rs1383114026 0.00001
NM_005535.3(IL12RB1):c.1057G>A (p.Gly353Arg) rs1265491160 0.00001
NM_005535.3(IL12RB1):c.1097C>T (p.Thr366Met) rs373994902 0.00001
NM_005535.3(IL12RB1):c.1100A>G (p.Tyr367Cys) rs1408160083 0.00001
NM_005535.3(IL12RB1):c.1135G>A (p.Gly379Ser) rs1201099204 0.00001
NM_005535.3(IL12RB1):c.1161G>A (p.Ala387=) rs144192488 0.00001
NM_005535.3(IL12RB1):c.1162C>T (p.Pro388Ser) rs528615642 0.00001
NM_005535.3(IL12RB1):c.1190-7_1190-6del rs771616497 0.00001
NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=) rs761731702 0.00001
NM_005535.3(IL12RB1):c.124+4C>T rs771664229 0.00001
NM_005535.3(IL12RB1):c.1249A>G (p.Thr417Ala) rs1233897841 0.00001
NM_005535.3(IL12RB1):c.1328-13G>T rs537448805 0.00001
NM_005535.3(IL12RB1):c.1329C>T (p.Ala443=) rs568897306 0.00001
NM_005535.3(IL12RB1):c.1346C>T (p.Pro449Leu) rs374424762 0.00001
NM_005535.3(IL12RB1):c.1367A>C (p.Asn456Thr) rs745668246 0.00001
NM_005535.3(IL12RB1):c.1388C>T (p.Ser463Phe) rs779133340 0.00001
NM_005535.3(IL12RB1):c.1391T>C (p.Val464Ala) rs1162752452 0.00001
NM_005535.3(IL12RB1):c.1416C>T (p.Ser472=) rs1402418091 0.00001
NM_005535.3(IL12RB1):c.1425C>T (p.Pro475=) rs1212402265 0.00001
NM_005535.3(IL12RB1):c.1484-10C>T rs1351186527 0.00001
NM_005535.3(IL12RB1):c.1484-19G>T rs959907651 0.00001
NM_005535.3(IL12RB1):c.1484-20G>C rs545789499 0.00001
NM_005535.3(IL12RB1):c.1488T>C (p.His496=) rs768902454 0.00001
NM_005535.3(IL12RB1):c.1558G>T (p.Val520Leu) rs917838985 0.00001
NM_005535.3(IL12RB1):c.160C>T (p.Arg54Trp) rs367796048 0.00001
NM_005535.3(IL12RB1):c.1651G>A (p.Ala551Thr) rs774754664 0.00001
NM_005535.3(IL12RB1):c.1661G>A (p.Gly554Glu) rs369861364 0.00001
NM_005535.3(IL12RB1):c.1716-8C>T rs1037288748 0.00001
NM_005535.3(IL12RB1):c.1723C>T (p.Arg575Trp) rs1242786208 0.00001
NM_005535.3(IL12RB1):c.1724G>A (p.Arg575Gln) rs767643297 0.00001
NM_005535.3(IL12RB1):c.1765G>A (p.Ala589Thr) rs376248199 0.00001
NM_005535.3(IL12RB1):c.1791+3A>T rs1405668365 0.00001
NM_005535.3(IL12RB1):c.1825G>A (p.Glu609Lys) rs1471672536 0.00001
NM_005535.3(IL12RB1):c.1878C>T (p.Gly626=) rs772945592 0.00001
NM_005535.3(IL12RB1):c.1912C>T (p.Pro638Ser) rs1327805116 0.00001
NM_005535.3(IL12RB1):c.1976A>G (p.Lys659Arg) rs1253598282 0.00001
NM_005535.3(IL12RB1):c.1984-12T>C rs970651176 0.00001
NM_005535.3(IL12RB1):c.232C>T (p.Arg78Trp) rs751966500 0.00001
NM_005535.3(IL12RB1):c.239+14T>C rs376392952 0.00001
NM_005535.3(IL12RB1):c.270C>T (p.Ala90=) rs199719163 0.00001
NM_005535.3(IL12RB1):c.280G>A (p.Ala94Thr) rs747526703 0.00001
NM_005535.3(IL12RB1):c.324G>A (p.Leu108=) rs756976448 0.00001
NM_005535.3(IL12RB1):c.360G>A (p.Arg120=) rs1362088055 0.00001
NM_005535.3(IL12RB1):c.395A>G (p.Gln132Arg) rs1249188206 0.00001
NM_005535.3(IL12RB1):c.410-15T>C rs1568509765 0.00001
NM_005535.3(IL12RB1):c.442G>A (p.Val148Met) rs766767626 0.00001
NM_005535.3(IL12RB1):c.466C>T (p.Arg156Cys) rs764553452 0.00001
NM_005535.3(IL12RB1):c.493C>T (p.Gln165Ter) rs1470879267 0.00001
NM_005535.3(IL12RB1):c.51G>T (p.Leu17=) rs1195319275 0.00001
NM_005535.3(IL12RB1):c.607A>T (p.Asn203Tyr) rs762860353 0.00001
NM_005535.3(IL12RB1):c.63C>T (p.Gly21=) rs557334989 0.00001
NM_005535.3(IL12RB1):c.653A>C (p.Gln218Pro) rs750806550 0.00001
NM_005535.3(IL12RB1):c.660T>C (p.Ser220=) rs1377091172 0.00001
NM_005535.3(IL12RB1):c.815A>G (p.Gln272Arg) rs1440358498 0.00001
NM_005535.3(IL12RB1):c.825G>A (p.Ala275=) rs141737618 0.00001
NM_005535.3(IL12RB1):c.832A>G (p.Thr278Ala) rs761302373 0.00001
NM_005535.3(IL12RB1):c.847C>T (p.Arg283Ter) rs373643598 0.00001
NM_005535.3(IL12RB1):c.865C>G (p.Leu289Val) rs1208670735 0.00001
NM_005535.3(IL12RB1):c.878G>T (p.Cys293Phe) rs2035113237 0.00001
NM_005535.3(IL12RB1):c.913A>T (p.Lys305Ter) rs1555782866 0.00001
NM_005535.3(IL12RB1):c.929C>T (p.Ser310Leu) rs767931872 0.00001
NM_005535.3(IL12RB1):c.936T>C (p.Ala312=) rs374776013 0.00001
NM_005535.3(IL12RB1):c.946G>A (p.Val316Met) rs34844088 0.00001
NM_005535.3(IL12RB1):c.966C>A (p.Asn322Lys) rs746816826 0.00001
NM_005535.3(IL12RB1):c.969A>G (p.Gln323=) rs896812207 0.00001
IL12RB1, 409-549DEL
NC_000019.10:g.(?_18073497)_(18073619_?)del
NC_000019.9:g.(?_18171912)_(18177527_?)del
NC_000019.9:g.(?_18174666)_(18174840_?)dup
NC_000019.9:g.(?_18174666)_(18179356_?)del
NC_000019.9:g.(?_18177332)_(18177527_?)del
NM_005535.2(IL12RB1):c.700+362_1619-944del
NM_005535.3(IL12RB1):c.-10C>A
NM_005535.3(IL12RB1):c.-17_-16dup
NM_005535.3(IL12RB1):c.-77G>A
NM_005535.3(IL12RB1):c.1008C>T (p.Ala336=)
NM_005535.3(IL12RB1):c.1021+18G>A
NM_005535.3(IL12RB1):c.1021+1G>C rs587776680
NM_005535.3(IL12RB1):c.1022-11del
NM_005535.3(IL12RB1):c.1022-1G>A rs2146216467
NM_005535.3(IL12RB1):c.1022-9_1022-8del
NM_005535.3(IL12RB1):c.1022A>T (p.Glu341Val) rs2146216439
NM_005535.3(IL12RB1):c.1030del (p.Ala344fs)
NM_005535.3(IL12RB1):c.1039A>G (p.Ile347Val)
NM_005535.3(IL12RB1):c.1044C>T (p.Ser348=) rs1323657115
NM_005535.3(IL12RB1):c.1061CCA[1] (p.Thr355del) rs2146215644
NM_005535.3(IL12RB1):c.1069T>C (p.Tyr357His)
NM_005535.3(IL12RB1):c.1081C>G (p.Arg361Gly) rs150261140
NM_005535.3(IL12RB1):c.1085C>T (p.Ala362Val) rs2146215232
NM_005535.3(IL12RB1):c.109C>A (p.Pro37Thr) rs754187694
NM_005535.3(IL12RB1):c.1104C>T (p.Cys368=)
NM_005535.3(IL12RB1):c.111G>A (p.Pro37=)
NM_005535.3(IL12RB1):c.1126C>T (p.Gln376Ter) rs121434493
NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg) rs401502
NM_005535.3(IL12RB1):c.1132G>T (p.Gly378Trp) rs401502
NM_005535.3(IL12RB1):c.1140T>C (p.Leu380=) rs1599484715
NM_005535.3(IL12RB1):c.1145C>G (p.Thr382Ser)
NM_005535.3(IL12RB1):c.1163C>T (p.Pro388Leu)
NM_005535.3(IL12RB1):c.1189+20T>A
NM_005535.3(IL12RB1):c.1189+3A>G
NM_005535.3(IL12RB1):c.1189+7G>A
NM_005535.3(IL12RB1):c.1201T>C (p.Trp401Arg) rs1416312567
NM_005535.3(IL12RB1):c.1208G>A (p.Arg403Gln) rs202048215
NM_005535.3(IL12RB1):c.1216G>T (p.Gly406Trp) rs2146201091
NM_005535.3(IL12RB1):c.1217G>A (p.Gly406Glu) rs199504990
NM_005535.3(IL12RB1):c.1217G>T (p.Gly406Val) rs199504990
NM_005535.3(IL12RB1):c.1220C>G (p.Ala407Gly) rs1475212123
NM_005535.3(IL12RB1):c.1229A>G (p.Gln410Arg)
NM_005535.3(IL12RB1):c.1233A>G (p.Glu411=)
NM_005535.3(IL12RB1):c.1238_1239del (p.Cys413fs) rs2146200643
NM_005535.3(IL12RB1):c.124+16T>C
NM_005535.3(IL12RB1):c.124+1G>T rs2036054113
NM_005535.3(IL12RB1):c.124+5G>A rs761367526
NM_005535.3(IL12RB1):c.1243T>C (p.Tyr415His)
NM_005535.3(IL12RB1):c.125-4C>G
NM_005535.3(IL12RB1):c.1252A>G (p.Ile418Val) rs2034760750
NM_005535.3(IL12RB1):c.1253T>C (p.Ile418Thr) rs2034760527
NM_005535.3(IL12RB1):c.1266G>A (p.Ala422=)
NM_005535.3(IL12RB1):c.1266_1279del (p.Pro424fs) rs1428057753
NM_005535.3(IL12RB1):c.1272C>T (p.Pro424=)
NM_005535.3(IL12RB1):c.1273G>A (p.Glu425Lys)
NM_005535.3(IL12RB1):c.1281C>T (p.Leu427=) rs2146199686
NM_005535.3(IL12RB1):c.129G>A (p.Ser43=) rs527461691
NM_005535.3(IL12RB1):c.1302G>T (p.Leu434=) rs1249610618
NM_005535.3(IL12RB1):c.1306A>C (p.Thr436Pro)
NM_005535.3(IL12RB1):c.1326T>C (p.Asn442=) rs190491500
NM_005535.3(IL12RB1):c.1327+13_1327+14del rs747639226
NM_005535.3(IL12RB1):c.1327+18G>A rs2146198373
NM_005535.3(IL12RB1):c.1327+1del
NM_005535.3(IL12RB1):c.1327G>A (p.Ala443Thr)
NM_005535.3(IL12RB1):c.1328-12T>C
NM_005535.3(IL12RB1):c.1328-15T>C rs1004503594
NM_005535.3(IL12RB1):c.1341G>T (p.Gly447=)
NM_005535.3(IL12RB1):c.1348C>T (p.His450Tyr) rs1259354262
NM_005535.3(IL12RB1):c.1352A>T (p.His451Leu)
NM_005535.3(IL12RB1):c.1353C>T (p.His451=)
NM_005535.3(IL12RB1):c.1360G>A (p.Val454Met) rs1043461219
NM_005535.3(IL12RB1):c.1370A>G (p.His457Arg) rs1287388059
NM_005535.3(IL12RB1):c.1386_1387del (p.Ser463fs)
NM_005535.3(IL12RB1):c.1408C>T (p.Leu470=)
NM_005535.3(IL12RB1):c.1420T>A (p.Cys474Ser)
NM_005535.3(IL12RB1):c.1424C>T (p.Pro475Leu)
NM_005535.3(IL12RB1):c.1427G>A (p.Gly476Asp) rs1270850388
NM_005535.3(IL12RB1):c.142A>G (p.Arg48Gly) rs1568517733
NM_005535.3(IL12RB1):c.1443T>C (p.Tyr481=)
NM_005535.3(IL12RB1):c.1447G>T (p.Val483Phe)
NM_005535.3(IL12RB1):c.1450C>T (p.Arg484Cys) rs373257834
NM_005535.3(IL12RB1):c.1461T>A (p.Asp487Glu) rs542734526
NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=) rs542734526
NM_005535.3(IL12RB1):c.1483+15G>A rs2146169669
NM_005535.3(IL12RB1):c.1483+5G>A
NM_005535.3(IL12RB1):c.1483+5G>T rs574126894
NM_005535.3(IL12RB1):c.1495C>T (p.Gln499Ter) rs781736642
NM_005535.3(IL12RB1):c.1508C>T (p.Thr503Ile) rs1160735739
NM_005535.3(IL12RB1):c.1519C>G (p.Leu507Val) rs751957558
NM_005535.3(IL12RB1):c.1532G>A (p.Arg511Gln)
NM_005535.3(IL12RB1):c.1534G>A (p.Ala512Thr)
NM_005535.3(IL12RB1):c.1551G>A (p.Thr517=)
NM_005535.3(IL12RB1):c.1556A>G (p.Gln519Arg)
NM_005535.3(IL12RB1):c.1558G>C (p.Val520Leu) rs917838985
NM_005535.3(IL12RB1):c.1561C>T (p.Arg521Ter) rs991981668
NM_005535.3(IL12RB1):c.1575G>A (p.Ala525=)
NM_005535.3(IL12RB1):c.158A>G (p.Tyr53Cys)
NM_005535.3(IL12RB1):c.1598_1604delinsCCG (p.Gln533fs) rs2034359637
NM_005535.3(IL12RB1):c.1606C>A (p.Arg536Ser) rs377695964
NM_005535.3(IL12RB1):c.1607G>A (p.Arg536His)
NM_005535.3(IL12RB1):c.1615A>C (p.Ile539Leu)
NM_005535.3(IL12RB1):c.1616T>A (p.Ile539Asn) rs2146121383
NM_005535.3(IL12RB1):c.1617C>A (p.Ile539=) rs778430238
NM_005535.3(IL12RB1):c.1618+11G>C rs574486067
NM_005535.3(IL12RB1):c.1618+11G>T
NM_005535.3(IL12RB1):c.1618+13G>A rs2146120907
NM_005535.3(IL12RB1):c.1618+1G>T rs1434654558
NM_005535.3(IL12RB1):c.1619-16C>T
NM_005535.3(IL12RB1):c.1619-17A>C
NM_005535.3(IL12RB1):c.1619-5C>G
NM_005535.3(IL12RB1):c.1621G>A (p.Val541Met) rs776936363
NM_005535.3(IL12RB1):c.1621G>C (p.Val541Leu)
NM_005535.3(IL12RB1):c.1623_1624delinsTT (p.Gln542Ter) rs2034195416
NM_005535.3(IL12RB1):c.1627G>C (p.Val543Leu) rs2034194848
NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=) rs2034193297
NM_005535.3(IL12RB1):c.1656C>A (p.Ser552=)
NM_005535.3(IL12RB1):c.1683C>A (p.Leu561=)
NM_005535.3(IL12RB1):c.1684G>A (p.Val562Met) rs1405787120
NM_005535.3(IL12RB1):c.1690dup (p.Val564fs)
NM_005535.3(IL12RB1):c.1691T>C (p.Val564Ala)
NM_005535.3(IL12RB1):c.169del (p.Ser57fs) rs1599555124
NM_005535.3(IL12RB1):c.1716-13C>A rs1266740887
NM_005535.3(IL12RB1):c.1716-8C>A
NM_005535.3(IL12RB1):c.1716-9_1716-8insGGTCCCCTTTCATCCCCA rs759702719
NM_005535.3(IL12RB1):c.1720G>A (p.Ala574Thr)
NM_005535.3(IL12RB1):c.1748C>T (p.Thr583Ile) rs2034092795
NM_005535.3(IL12RB1):c.1750C>T (p.Pro584Ser) rs1011795611
NM_005535.3(IL12RB1):c.1765del (p.Ala589fs) rs1476855887
NM_005535.3(IL12RB1):c.1786A>G (p.Lys596Glu) rs567051378
NM_005535.3(IL12RB1):c.1791+1G>C
NM_005535.3(IL12RB1):c.1791+7A>T
NM_005535.3(IL12RB1):c.1792-12C>T
NM_005535.3(IL12RB1):c.1792-14C>A rs749091032
NM_005535.3(IL12RB1):c.1792-14C>T
NM_005535.3(IL12RB1):c.1792-18C>T rs770301066
NM_005535.3(IL12RB1):c.1792-1G>A
NM_005535.3(IL12RB1):c.1835C>T (p.Ser612Phe)
NM_005535.3(IL12RB1):c.1851G>A (p.Leu617=)
NM_005535.3(IL12RB1):c.1856T>C (p.Val619Ala) rs2034011395
NM_005535.3(IL12RB1):c.1867T>C (p.Trp623Arg)
NM_005535.3(IL12RB1):c.1877G>A (p.Gly626Asp)
NM_005535.3(IL12RB1):c.1896C>G (p.Leu632=) rs769424178
NM_005535.3(IL12RB1):c.1896C>T (p.Leu632=) rs769424178
NM_005535.3(IL12RB1):c.1897G>T (p.Glu633Ter)
NM_005535.3(IL12RB1):c.1902G>A (p.Lys634=) rs2146060829
NM_005535.3(IL12RB1):c.192G>T (p.Trp64Cys) rs2035963299
NM_005535.3(IL12RB1):c.1972T>C (p.Cys658Arg)
NM_005535.3(IL12RB1):c.1983+10C>T
NM_005535.3(IL12RB1):c.1983+15T>C
NM_005535.3(IL12RB1):c.1983+16G>A rs2146058767
NM_005535.3(IL12RB1):c.1983+17G>A
NM_005535.3(IL12RB1):c.1983+4C>T
NM_005535.3(IL12RB1):c.1984-15TGT[4] rs2033974418
NM_005535.3(IL12RB1):c.1984-1G>A rs933645266
NM_005535.3(IL12RB1):c.1989A>G (p.Ter663Trp)
NM_005535.3(IL12RB1):c.19T>A (p.Trp7Arg) rs775656716
NM_005535.3(IL12RB1):c.202G>T (p.Gly68Cys)
NM_005535.3(IL12RB1):c.203G>T (p.Gly68Val)
NM_005535.3(IL12RB1):c.206C>T (p.Pro69Leu)
NM_005535.3(IL12RB1):c.207C>T (p.Pro69=) rs2146415034
NM_005535.3(IL12RB1):c.213T>G (p.Ala71=) rs1332656969
NM_005535.3(IL12RB1):c.239+11C>T
NM_005535.3(IL12RB1):c.239+11del
NM_005535.3(IL12RB1):c.239+8C>A
NM_005535.3(IL12RB1):c.240-10C>T
NM_005535.3(IL12RB1):c.251_254del (p.Gly84fs) rs1568515222
NM_005535.3(IL12RB1):c.252G>T (p.Gly84=)
NM_005535.3(IL12RB1):c.253C>T (p.Arg85Cys)
NM_005535.3(IL12RB1):c.254G>A (p.Arg85His) rs754415781
NM_005535.3(IL12RB1):c.264C>G (p.Tyr88Ter) rs1202592147
NM_005535.3(IL12RB1):c.265T>C (p.Phe89Leu) rs544324864
NM_005535.3(IL12RB1):c.279A>T (p.Ser93=)
NM_005535.3(IL12RB1):c.297C>T (p.Phe99=) rs2146391015
NM_005535.3(IL12RB1):c.301G>A (p.Asp101Asn) rs748586854
NM_005535.3(IL12RB1):c.304C>A (p.Gln102Lys)
NM_005535.3(IL12RB1):c.304C>T (p.Gln102Ter)
NM_005535.3(IL12RB1):c.312G>A (p.Gly104=)
NM_005535.3(IL12RB1):c.318T>C (p.Ser106=) rs750411887
NM_005535.3(IL12RB1):c.345G>A (p.Val115=)
NM_005535.3(IL12RB1):c.369dup (p.Glu124fs) rs2146389344
NM_005535.3(IL12RB1):c.370G>C (p.Glu124Gln) rs772617080
NM_005535.3(IL12RB1):c.394C>T (p.Gln132Ter)
NM_005535.3(IL12RB1):c.395_398dup (p.Tyr134fs)
NM_005535.3(IL12RB1):c.399C>T (p.Leu133=) rs2146388442
NM_005535.3(IL12RB1):c.402C>T (p.Tyr134=)
NM_005535.3(IL12RB1):c.409+18C>T
NM_005535.3(IL12RB1):c.410-14A>G rs2146340184
NM_005535.3(IL12RB1):c.424C>T (p.Pro142Ser) rs1422712526
NM_005535.3(IL12RB1):c.43T>G (p.Phe15Val) rs1429095330
NM_005535.3(IL12RB1):c.444G>A (p.Val148=)
NM_005535.3(IL12RB1):c.454G>T (p.Ala152Ser)
NM_005535.3(IL12RB1):c.456C>G (p.Ala152=)
NM_005535.3(IL12RB1):c.458G>A (p.Gly153Glu) rs1193767696
NM_005535.3(IL12RB1):c.486G>A (p.Pro162=)
NM_005535.3(IL12RB1):c.488A>C (p.Asp163Ala) rs374204463
NM_005535.3(IL12RB1):c.488A>G (p.Asp163Gly) rs374204463
NM_005535.3(IL12RB1):c.509T>A (p.Val170Glu)
NM_005535.3(IL12RB1):c.518G>C (p.Arg173Pro) rs756272570
NM_005535.3(IL12RB1):c.51G>C (p.Leu17=)
NM_005535.3(IL12RB1):c.523C>T (p.Arg175Trp)
NM_005535.3(IL12RB1):c.534C>A (p.Ser178Arg) rs757331863
NM_005535.3(IL12RB1):c.550-15A>G
NM_005535.3(IL12RB1):c.559G>A (p.Gly187Arg) rs564884307
NM_005535.3(IL12RB1):c.559G>T (p.Gly187Ter) rs564884307
NM_005535.3(IL12RB1):c.580+14T>C rs1017783625
NM_005535.3(IL12RB1):c.581-12G>A rs924371179
NM_005535.3(IL12RB1):c.581-17G>C
NM_005535.3(IL12RB1):c.581-8C>G
NM_005535.3(IL12RB1):c.592T>C (p.Cys198Arg) rs121434495
NM_005535.3(IL12RB1):c.599del (p.Leu200fs) rs1169002203
NM_005535.3(IL12RB1):c.635G>A (p.Arg212Gln) rs748173451
NM_005535.3(IL12RB1):c.64+10del
NM_005535.3(IL12RB1):c.64+17T>G
NM_005535.3(IL12RB1):c.64+1G>T
NM_005535.3(IL12RB1):c.64+2T>G
NM_005535.3(IL12RB1):c.65-3C>T rs1599561351
NM_005535.3(IL12RB1):c.666G>C (p.Trp222Cys)
NM_005535.3(IL12RB1):c.682C>T (p.Pro228Ser)
NM_005535.3(IL12RB1):c.684C>G (p.Pro228=) rs17852635
NM_005535.3(IL12RB1):c.684C>T (p.Pro228=) rs17852635
NM_005535.3(IL12RB1):c.699del (p.Glu234fs) rs2146310027
NM_005535.3(IL12RB1):c.700+11T>C
NM_005535.3(IL12RB1):c.701-13G>T
NM_005535.3(IL12RB1):c.701-8G>C rs1267535029
NM_005535.3(IL12RB1):c.705C>T (p.Asn235=)
NM_005535.3(IL12RB1):c.710C>A (p.Pro237Gln) rs1402432695
NM_005535.3(IL12RB1):c.710C>T (p.Pro237Leu)
NM_005535.3(IL12RB1):c.729C>T (p.Phe243=)
NM_005535.3(IL12RB1):c.732G>A (p.Ser244=) rs145487261
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=) rs145487261
NM_005535.3(IL12RB1):c.764G>A (p.Arg255Gln)
NM_005535.3(IL12RB1):c.780G>A (p.Glu260=)
NM_005535.3(IL12RB1):c.783+6G>C rs370669239
NM_005535.3(IL12RB1):c.790C>T (p.Gln264Ter) rs2146259279
NM_005535.3(IL12RB1):c.796G>C (p.Glu266Gln)
NM_005535.3(IL12RB1):c.812G>C (p.Cys271Ser) rs765469185
NM_005535.3(IL12RB1):c.81T>C (p.Ser27=) rs2146438753
NM_005535.3(IL12RB1):c.830G>A (p.Gly277Asp) rs1419753903
NM_005535.3(IL12RB1):c.83A>G (p.Glu28Gly)
NM_005535.3(IL12RB1):c.849A>G (p.Arg283=)
NM_005535.3(IL12RB1):c.851T>A (p.Leu284Gln)
NM_005535.3(IL12RB1):c.861C>T (p.His287=) rs2146257807
NM_005535.3(IL12RB1):c.870C>T (p.Ser290=)
NM_005535.3(IL12RB1):c.876G>A (p.Pro292=) rs757032676
NM_005535.3(IL12RB1):c.881AGGCCA[3] (p.294KA[3]) rs746948689
NM_005535.3(IL12RB1):c.8C>A (p.Pro3Gln) rs17884651
NM_005535.3(IL12RB1):c.8C>T (p.Pro3Leu) rs17884651
NM_005535.3(IL12RB1):c.942C>A (p.Tyr314Ter) rs762747908
NM_005535.3(IL12RB1):c.946del (p.Val316fs)
NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter) rs147766868
NM_005535.3(IL12RB1):c.963G>A (p.Ser321=) rs267605361
NM_005535.3(IL12RB1):c.993G>A (p.Thr331=)
NM_005535.3(IL12RB1):c.993G>T (p.Thr331=) rs142427383
NM_005535.3(IL12RB1):c.998A>G (p.His333Arg)
NM_005535.3(IL12RB1):c.9G>A (p.Pro3=)

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