ClinVar Miner

List of variants in gene IL21R studied for Cryptosporidiosis-chronic cholangitis-liver disease syndrome

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Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_181078.3(IL21R):c.785+16G>C rs963154 0.35683
NM_181078.3(IL21R):c.531A>G (p.Ser177=) rs3093369 0.01155
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_181078.3(IL21R):c.954C>G (p.Ser318Arg) rs3093385 0.00454
NM_181078.3(IL21R):c.137C>T (p.Thr46Met) rs137946070 0.00360
NM_181078.3(IL21R):c.153-19G>A rs3093342 0.00198
NM_181078.3(IL21R):c.360G>A (p.Pro120=) rs141558701 0.00122
NM_181078.3(IL21R):c.571C>T (p.Arg191Cys) rs3093370 0.00069
NM_181078.3(IL21R):c.19G>A (p.Ala7Thr) rs145338579 0.00058
NM_181078.3(IL21R):c.605C>T (p.Ala202Val) rs147673485 0.00055
NM_181078.3(IL21R):c.426C>T (p.Tyr142=) rs137868301 0.00054
NM_181078.3(IL21R):c.415C>T (p.Arg139Cys) rs146177564 0.00053
NM_181078.3(IL21R):c.786-14C>G rs202012016 0.00039
NM_181078.3(IL21R):c.139C>T (p.Leu47Phe) rs140808008 0.00033
NM_181078.3(IL21R):c.615G>C (p.Met205Ile) rs201566028 0.00031
NM_181078.3(IL21R):c.1113C>T (p.Tyr371=) rs145529117 0.00030
NM_181078.3(IL21R):c.352+16C>T rs368431181 0.00027
NM_181078.3(IL21R):c.582G>A (p.Ser194=) rs142037270 0.00027
NM_181078.3(IL21R):c.81C>T (p.Thr27=) rs373735352 0.00021
NM_181078.3(IL21R):c.402T>C (p.Tyr134=) rs56189419 0.00011
NM_181078.3(IL21R):c.467A>G (p.Tyr156Cys) rs745372589 0.00011
NM_181078.3(IL21R):c.482G>C (p.Arg161Thr) rs143921988 0.00011
NM_181078.3(IL21R):c.270C>T (p.Ala90=) rs201431824 0.00010
NM_181078.3(IL21R):c.786-16C>T rs56168417 0.00010
NM_181078.3(IL21R):c.257T>A (p.Phe86Tyr) rs988781363 0.00009
NM_181078.3(IL21R):c.50-16C>T rs369236227 0.00009
NM_181078.3(IL21R):c.63C>T (p.Pro21=) rs147702809 0.00006
NM_181078.3(IL21R):c.833T>A (p.Met278Lys) rs369667782 0.00006
NM_181078.3(IL21R):c.95C>T (p.Thr32Met) rs374987749 0.00006
NM_181078.3(IL21R):c.1059G>A (p.Pro353=) rs374745479 0.00005
NM_181078.3(IL21R):c.128A>C (p.His43Pro) rs757749249 0.00005
NM_181078.3(IL21R):c.1331G>A (p.Ser444Asn) rs528051527 0.00005
NM_181078.3(IL21R):c.252T>C (p.Asp84=) rs1183434798 0.00005
NM_181078.3(IL21R):c.487C>T (p.Arg163Trp) rs764839803 0.00005
NM_181078.3(IL21R):c.495C>A (p.Asp165Glu) rs779790998 0.00005
NM_181078.3(IL21R):c.572G>A (p.Arg191His) rs573484984 0.00005
NM_181078.3(IL21R):c.209C>T (p.Ser70Leu) rs780430063 0.00004
NM_181078.3(IL21R):c.339C>T (p.Leu113=) rs201430379 0.00004
NM_181078.3(IL21R):c.505G>A (p.Val169Met) rs142403771 0.00004
NM_181078.3(IL21R):c.64G>A (p.Asp22Asn) rs149169230 0.00004
NM_181078.3(IL21R):c.660G>A (p.Pro220=) rs747035204 0.00004
NM_181078.3(IL21R):c.96G>A (p.Thr32=) rs187217568 0.00004
NM_181078.3(IL21R):c.1073C>T (p.Ser358Leu) rs748354630 0.00003
NM_181078.3(IL21R):c.1316G>C (p.Gly439Ala) rs199542730 0.00003
NM_181078.3(IL21R):c.1583C>T (p.Pro528Leu) rs376045198 0.00003
NM_181078.3(IL21R):c.357G>A (p.Lys119=) rs777661467 0.00003
NM_181078.3(IL21R):c.542G>C (p.Arg181Thr) rs758462314 0.00003
NM_181078.3(IL21R):c.659C>T (p.Pro220Leu) rs780311714 0.00003
NM_181078.3(IL21R):c.770C>T (p.Thr257Ile) rs200026397 0.00003
NM_181078.3(IL21R):c.855C>T (p.Ser285=) rs374663077 0.00003
NM_181078.3(IL21R):c.867+9C>T rs1401561548 0.00003
NM_181078.3(IL21R):c.968G>A (p.Arg323Gln) rs144751116 0.00003
NM_181078.3(IL21R):c.1058C>T (p.Pro353Leu) rs550842554 0.00002
NM_181078.3(IL21R):c.1191C>T (p.Asp397=) rs750369453 0.00002
NM_181078.3(IL21R):c.152+10C>T rs761690967 0.00002
NM_181078.3(IL21R):c.27G>T (p.Leu9Phe) rs758665836 0.00002
NM_181078.3(IL21R):c.67C>T (p.Leu23Phe) rs760116270 0.00002
NM_181078.3(IL21R):c.786-9C>A rs756596754 0.00002
NM_181078.3(IL21R):c.7C>T (p.Arg3Cys) rs1385136152 0.00002
NM_181078.3(IL21R):c.867+11G>A rs763080402 0.00002
NM_181078.3(IL21R):c.962C>A (p.Pro321Gln) rs747607462 0.00002
NM_181078.3(IL21R):c.117G>A (p.Met39Ile) rs756330286 0.00001
NM_181078.3(IL21R):c.1192G>A (p.Gly398Ser) rs758246145 0.00001
NM_181078.3(IL21R):c.1266G>C (p.Gly422=) rs760423765 0.00001
NM_181078.3(IL21R):c.1275C>G (p.Val425=) rs763777534 0.00001
NM_181078.3(IL21R):c.1286G>C (p.Gly429Ala) rs764788674 0.00001
NM_181078.3(IL21R):c.1321C>T (p.Pro441Ser) rs756335632 0.00001
NM_181078.3(IL21R):c.138G>A (p.Thr46=) rs771721185 0.00001
NM_181078.3(IL21R):c.152+11G>A rs769726854 0.00001
NM_181078.3(IL21R):c.153-20C>T rs3093401 0.00001
NM_181078.3(IL21R):c.1584G>A (p.Pro528=) rs370397954 0.00001
NM_181078.3(IL21R):c.1593G>A (p.Ser531=) rs926286373 0.00001
NM_181078.3(IL21R):c.1610C>T (p.Ala537Val) rs530838561 0.00001
NM_181078.3(IL21R):c.181G>A (p.Glu61Lys) rs765293093 0.00001
NM_181078.3(IL21R):c.18C>T (p.Ala6=) rs559479535 0.00001
NM_181078.3(IL21R):c.191C>T (p.Ser64Phe) rs758877703 0.00001
NM_181078.3(IL21R):c.213C>T (p.Ala71=) rs529309087 0.00001
NM_181078.3(IL21R):c.224C>T (p.Thr75Met) rs747751606 0.00001
NM_181078.3(IL21R):c.24C>T (p.Pro8=) rs777584572 0.00001
NM_181078.3(IL21R):c.260A>G (p.His87Arg) rs1439154337 0.00001
NM_181078.3(IL21R):c.273C>T (p.Asp91=) rs761924013 0.00001
NM_181078.3(IL21R):c.348G>A (p.Glu116=) rs752444834 0.00001
NM_181078.3(IL21R):c.353-9T>C rs1294727591 0.00001
NM_181078.3(IL21R):c.381T>C (p.Thr127=) rs1261615952 0.00001
NM_181078.3(IL21R):c.39G>A (p.Leu13=) rs780077018 0.00001
NM_181078.3(IL21R):c.453G>A (p.Lys151=) rs1555498308 0.00001
NM_181078.3(IL21R):c.457A>G (p.Lys153Glu) rs149485226 0.00001
NM_181078.3(IL21R):c.512C>T (p.Pro171Leu) rs367586016 0.00001
NM_181078.3(IL21R):c.513G>A (p.Pro171=) rs752443447 0.00001
NM_181078.3(IL21R):c.516G>A (p.Arg172=) rs1485014350 0.00001
NM_181078.3(IL21R):c.555C>T (p.Leu185=) rs2087444518 0.00001
NM_181078.3(IL21R):c.581C>T (p.Ser194Leu) rs374130131 0.00001
NM_181078.3(IL21R):c.602G>A (p.Arg201Gln) rs397514685 0.00001
NM_181078.3(IL21R):c.607G>A (p.Gly203Arg) rs1430665419 0.00001
NM_181078.3(IL21R):c.609G>A (p.Gly203=) rs755926054 0.00001
NM_181078.3(IL21R):c.69C>T (p.Leu23=) rs202066831 0.00001
NM_181078.3(IL21R):c.723C>T (p.Leu241=) rs1240842516 0.00001
NM_181078.3(IL21R):c.734T>C (p.Val245Ala) rs138134818 0.00001
NM_181078.3(IL21R):c.753C>T (p.Ala251=) rs1237106214 0.00001
NM_181078.3(IL21R):c.76T>C (p.Tyr26His) rs1021436946 0.00001
NM_181078.3(IL21R):c.775C>T (p.Pro259Ser) rs534119618 0.00001
NM_181078.3(IL21R):c.785+10G>C rs1185644382 0.00001
NM_181078.3(IL21R):c.785+19G>T rs778601431 0.00001
NM_181078.3(IL21R):c.807C>T (p.Ala269=) rs746467550 0.00001
NM_181078.3(IL21R):c.865A>C (p.Lys289Gln) rs1252604703 0.00001
NM_181078.3(IL21R):c.8G>A (p.Arg3His) rs913538510 0.00001
NM_181078.3(IL21R):c.909G>A (p.Leu303=) rs995647199 0.00001
NM_181078.3(IL21R):c.942G>A (p.Leu314=) rs758862352 0.00001
NM_181078.3(IL21R):c.974C>T (p.Pro325Leu) rs569320047 0.00001
NM_181078.3(IL21R):c.975G>A (p.Pro325=) rs543436759 0.00001
NM_181078.3(IL21R):c.976G>A (p.Ala326Thr) rs1171960252 0.00001
NM_181078.3(IL21R):c.977C>T (p.Ala326Val) rs773983329 0.00001
NM_181078.3(IL21R):c.1040C>T (p.Pro347Leu) rs1596600087
NM_181078.3(IL21R):c.1046C>T (p.Pro349Leu)
NM_181078.3(IL21R):c.1049G>A (p.Ser350Asn) rs752397166
NM_181078.3(IL21R):c.1050C>A (p.Ser350Arg) rs755746046
NM_181078.3(IL21R):c.1052T>C (p.Phe351Ser)
NM_181078.3(IL21R):c.1057C>T (p.Pro353Ser) rs753850374
NM_181078.3(IL21R):c.1064C>A (p.Ala355Asp) rs1217511255
NM_181078.3(IL21R):c.1071C>A (p.Asn357Lys) rs1442303038
NM_181078.3(IL21R):c.1074G>A (p.Ser358=)
NM_181078.3(IL21R):c.1075G>A (p.Gly359Arg)
NM_181078.3(IL21R):c.1076G>T (p.Gly359Val)
NM_181078.3(IL21R):c.1080C>T (p.Gly360=)
NM_181078.3(IL21R):c.10G>A (p.Gly4Ser)
NM_181078.3(IL21R):c.1105C>T (p.Arg369Trp) rs771285932
NM_181078.3(IL21R):c.1107G>A (p.Arg369=)
NM_181078.3(IL21R):c.1121T>C (p.Val374Ala) rs2087533531
NM_181078.3(IL21R):c.1124C>T (p.Ser375Phe) rs2141319216
NM_181078.3(IL21R):c.1143G>C (p.Val381=) rs752449999
NM_181078.3(IL21R):c.1155G>A (p.Glu385=)
NM_181078.3(IL21R):c.1173C>T (p.Pro391=)
NM_181078.3(IL21R):c.1178G>C (p.Ser393Thr) rs375328425
NM_181078.3(IL21R):c.1178G>T (p.Ser393Ile) rs375328425
NM_181078.3(IL21R):c.1189G>T (p.Asp397Tyr) rs539289321
NM_181078.3(IL21R):c.1212G>A (p.Leu404=)
NM_181078.3(IL21R):c.121A>G (p.Asn41Asp)
NM_181078.3(IL21R):c.1225_1226delinsAC (p.Glu409Thr) rs1567374926
NM_181078.3(IL21R):c.1236A>C (p.Pro412=) rs772608088
NM_181078.3(IL21R):c.1236A>T (p.Pro412=) rs772608088
NM_181078.3(IL21R):c.1243G>C (p.Glu415Gln) rs2087536408
NM_181078.3(IL21R):c.126C>T (p.Leu42=) rs777897180
NM_181078.3(IL21R):c.1277T>C (p.Leu426Pro) rs776206056
NM_181078.3(IL21R):c.1286G>T (p.Gly429Val)
NM_181078.3(IL21R):c.1316G>A (p.Gly439Glu) rs199542730
NM_181078.3(IL21R):c.1321C>A (p.Pro441Thr) rs756335632
NM_181078.3(IL21R):c.1325T>G (p.Leu442Arg)
NM_181078.3(IL21R):c.1326G>A (p.Leu442=)
NM_181078.3(IL21R):c.1330A>G (p.Ser444Gly)
NM_181078.3(IL21R):c.141C>A (p.Leu47=)
NM_181078.3(IL21R):c.143C>A (p.Thr48Asn)
NM_181078.3(IL21R):c.144C>T (p.Thr48=) rs2141290474
NM_181078.3(IL21R):c.149C>G (p.Thr50Ser) rs776178795
NM_181078.3(IL21R):c.152+10C>A rs761690967
NM_181078.3(IL21R):c.152+11G>C rs769726854
NM_181078.3(IL21R):c.152+18_152+19del
NM_181078.3(IL21R):c.152+20C>G
NM_181078.3(IL21R):c.152+7_152+23del rs768314938
NM_181078.3(IL21R):c.1581T>C (p.Pro527=)
NM_181078.3(IL21R):c.1584G>C (p.Pro528=) rs370397954
NM_181078.3(IL21R):c.1590T>G (p.Leu530=)
NM_181078.3(IL21R):c.1592C>T (p.Ser531Leu)
NM_181078.3(IL21R):c.1602A>T (p.Gly534=)
NM_181078.3(IL21R):c.1605C>G (p.Pro535=)
NM_181078.3(IL21R):c.1607A>G (p.Gln536Arg)
NM_181078.3(IL21R):c.17C>T (p.Ala6Val) rs577126383
NM_181078.3(IL21R):c.180C>T (p.Asp60=)
NM_181078.3(IL21R):c.205A>C (p.Arg69=)
NM_181078.3(IL21R):c.20C>G (p.Ala7Gly) rs559469718
NM_181078.3(IL21R):c.210G>A (p.Ser70=)
NM_181078.3(IL21R):c.225G>A (p.Thr75=)
NM_181078.3(IL21R):c.241_246del (p.Cys81_His82del) rs886037632
NM_181078.3(IL21R):c.246C>T (p.His82=)
NM_181078.3(IL21R):c.27dup (p.Leu10fs)
NM_181078.3(IL21R):c.314A>C (p.Tyr105Ser) rs2141295557
NM_181078.3(IL21R):c.334T>C (p.Phe112Leu) rs2141295621
NM_181078.3(IL21R):c.352+18C>T
NM_181078.3(IL21R):c.352+1G>C rs2087297703
NM_181078.3(IL21R):c.352+20A>C
NM_181078.3(IL21R):c.352+9C>G
NM_181078.3(IL21R):c.353-18C>T
NM_181078.3(IL21R):c.353-4C>A
NM_181078.3(IL21R):c.359C>T (p.Pro120Leu)
NM_181078.3(IL21R):c.375C>T (p.Asn125=)
NM_181078.3(IL21R):c.376G>A (p.Val126Met)
NM_181078.3(IL21R):c.386C>T (p.Thr129Ile) rs2087415911
NM_181078.3(IL21R):c.3_4delinsAA (p.Met1_Pro2delinsIleThr) rs1567364201
NM_181078.3(IL21R):c.433C>A (p.Pro145Thr)
NM_181078.3(IL21R):c.433C>T (p.Pro145Ser) rs749503528
NM_181078.3(IL21R):c.437C>G (p.Ala146Gly) rs774265226
NM_181078.3(IL21R):c.465G>A (p.Gln155=)
NM_181078.3(IL21R):c.468T>A (p.Tyr156Ter)
NM_181078.3(IL21R):c.481A>G (p.Arg161Gly) rs2087418017
NM_181078.3(IL21R):c.48A>G (p.Gly16=) rs768921476
NM_181078.3(IL21R):c.49+15C>T
NM_181078.3(IL21R):c.49+16G>A
NM_181078.3(IL21R):c.50-16C>A
NM_181078.3(IL21R):c.50-18T>C
NM_181078.3(IL21R):c.50-4C>T
NM_181078.3(IL21R):c.508-30_508-20del rs2087443169
NM_181078.3(IL21R):c.508-7_508-6delinsAC rs2087443732
NM_181078.3(IL21R):c.515G>C (p.Arg172Thr) rs2087443936
NM_181078.3(IL21R):c.545G>A (p.Ser182Asn) rs2087444395
NM_181078.3(IL21R):c.553C>T (p.Leu185Phe)
NM_181078.3(IL21R):c.557T>C (p.Leu186Pro)
NM_181078.3(IL21R):c.558C>T (p.Leu186=)
NM_181078.3(IL21R):c.561C>G (p.Pro187=)
NM_181078.3(IL21R):c.561C>T (p.Pro187=)
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941
NM_181078.3(IL21R):c.585C>G (p.Ser195Arg) rs773814550
NM_181078.3(IL21R):c.598G>A (p.Val200Met) rs759494920
NM_181078.3(IL21R):c.598G>T (p.Val200Leu) rs759494920
NM_181078.3(IL21R):c.601C>T (p.Arg201Trp)
NM_181078.3(IL21R):c.602G>T (p.Arg201Leu) rs397514685
NM_181078.3(IL21R):c.611C>T (p.Pro204Leu) rs1240233597
NM_181078.3(IL21R):c.62C>T (p.Pro21Leu)
NM_181078.3(IL21R):c.637del (p.Thr213fs)
NM_181078.3(IL21R):c.680C>T (p.Ser227Leu)
NM_181078.3(IL21R):c.685+15G>A
NM_181078.3(IL21R):c.685+4G>C rs2141310113
NM_181078.3(IL21R):c.686-17C>A
NM_181078.3(IL21R):c.686-2A>G
NM_181078.3(IL21R):c.688T>C (p.Leu230=)
NM_181078.3(IL21R):c.70G>A (p.Val24Ile)
NM_181078.3(IL21R):c.70G>T (p.Val24Phe) rs201895589
NM_181078.3(IL21R):c.714G>A (p.Leu238=)
NM_181078.3(IL21R):c.715C>A (p.Leu239Met) rs2141311074
NM_181078.3(IL21R):c.72C>T (p.Val24=) rs1596586040
NM_181078.3(IL21R):c.741C>G (p.Val247=)
NM_181078.3(IL21R):c.756C>T (p.Phe252=)
NM_181078.3(IL21R):c.776del (p.Pro259fs)
NM_181078.3(IL21R):c.785+19G>A
NM_181078.3(IL21R):c.786-18C>T
NM_181078.3(IL21R):c.786-25_786-19del
NM_181078.3(IL21R):c.786-5C>A
NM_181078.3(IL21R):c.786-5C>T rs779223620
NM_181078.3(IL21R):c.786-6C>G
NM_181078.3(IL21R):c.786-8C>T
NM_181078.3(IL21R):c.787C>A (p.Leu263Ile)
NM_181078.3(IL21R):c.790T>C (p.Trp264Arg) rs2087470609
NM_181078.3(IL21R):c.798G>A (p.Lys266=)
NM_181078.3(IL21R):c.800T>C (p.Ile267Thr) rs1303388360
NM_181078.3(IL21R):c.823C>G (p.Arg275Gly) rs200379224
NM_181078.3(IL21R):c.823C>T (p.Arg275Trp) rs200379224
NM_181078.3(IL21R):c.833T>G (p.Met278Arg) rs369667782
NM_181078.3(IL21R):c.835C>A (p.Pro279Thr)
NM_181078.3(IL21R):c.835C>T (p.Pro279Ser) rs2087472224
NM_181078.3(IL21R):c.839T>C (p.Leu280Pro) rs1555498519
NM_181078.3(IL21R):c.842dup (p.Tyr281Ter) rs2141313155
NM_181078.3(IL21R):c.853A>C (p.Ser285Arg)
NM_181078.3(IL21R):c.867+10C>T
NM_181078.3(IL21R):c.867+16T>C
NM_181078.3(IL21R):c.875T>C (p.Val292Ala) rs1596599736
NM_181078.3(IL21R):c.903G>T (p.Leu301=)
NM_181078.3(IL21R):c.90C>T (p.Leu30=) rs1596586066
NM_181078.3(IL21R):c.910G>T (p.Gly304Ter) rs2087526618
NM_181078.3(IL21R):c.933C>T (p.Pro311=)
NM_181078.3(IL21R):c.934T>C (p.Ser312Pro) rs1596599840
NM_181078.3(IL21R):c.937A>G (p.Thr313Ala) rs1567374436
NM_181078.3(IL21R):c.946del (p.Val316fs) rs2141318549
NM_181078.3(IL21R):c.947T>C (p.Val316Ala)
NM_181078.3(IL21R):c.96G>C (p.Thr32=) rs187217568
NM_181078.3(IL21R):c.970A>G (p.Ser324Gly)
NM_181078.3(IL21R):c.972C>A (p.Ser324Arg) rs2141318656
NM_181078.3(IL21R):c.978C>A (p.Ala326=)
NM_181078.3(IL21R):c.978C>G (p.Ala326=) rs2087528777

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