ClinVar Miner

List of variants reported as uncertain significance for Cryptosporidiosis-chronic cholangitis-liver disease syndrome

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Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525 0.00271
NM_181078.3(IL21R):c.605C>T (p.Ala202Val) rs147673485 0.00055
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.467A>G (p.Tyr156Cys) rs745372589 0.00011
NM_181078.3(IL21R):c.482G>C (p.Arg161Thr) rs143921988 0.00011
NM_181078.3(IL21R):c.1412G>C (p.Gly471Ala) rs776202922 0.00010
NM_181078.3(IL21R):c.257T>A (p.Phe86Tyr) rs988781363 0.00009
NM_181078.3(IL21R):c.1442C>T (p.Pro481Leu) rs141625630 0.00008
NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln) rs761950657 0.00007
NM_181078.3(IL21R):c.995C>T (p.Thr332Met) rs761814669 0.00007
NM_181078.3(IL21R):c.1537G>A (p.Glu513Lys) rs1009136590 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.128A>C (p.His43Pro) rs757749249 0.00005
NM_181078.3(IL21R):c.1331G>A (p.Ser444Asn) rs528051527 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.1034G>A (p.Gly345Asp) rs759242116 0.00004
NM_181078.3(IL21R):c.209C>T (p.Ser70Leu) rs780430063 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.1073C>T (p.Ser358Leu) rs748354630 0.00003
NM_181078.3(IL21R):c.1316G>C (p.Gly439Ala) rs199542730 0.00003
NM_181078.3(IL21R):c.1403G>A (p.Arg468Gln) rs779279193 0.00003
NM_181078.3(IL21R):c.1583C>T (p.Pro528Leu) rs376045198 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.968G>A (p.Arg323Gln) rs144751116 0.00003
NM_181078.3(IL21R):c.1058C>T (p.Pro353Leu) rs550842554 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.7C>T (p.Arg3Cys) rs1385136152 0.00002
NM_181078.3(IL21R):c.962C>A (p.Pro321Gln) rs747607462 0.00002
NM_181078.3(IL21R):c.1021G>A (p.Val341Met) rs1017631687 0.00001
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.1286G>C (p.Gly429Ala) rs764788674 0.00001
NM_181078.3(IL21R):c.1321C>T (p.Pro441Ser) rs756335632 0.00001
NM_181078.3(IL21R):c.1364A>T (p.Asp455Val) rs370088512 0.00001
NM_181078.3(IL21R):c.1402C>T (p.Arg468Trp) rs776008613 0.00001
NM_181078.3(IL21R):c.1543C>A (p.Pro515Thr) rs762518345 0.00001
NM_181078.3(IL21R):c.1562G>A (p.Arg521His) rs372897692 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.191C>T (p.Ser64Phe) rs758877703 0.00001
NM_181078.3(IL21R):c.224C>T (p.Thr75Met) rs747751606 0.00001
NM_181078.3(IL21R):c.260A>G (p.His87Arg) rs1439154337 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.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.734T>C (p.Val245Ala) rs138134818 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.865A>C (p.Lys289Gln) rs1252604703 0.00001
NM_181078.3(IL21R):c.8G>A (p.Arg3His) rs913538510 0.00001
NM_181078.3(IL21R):c.974C>T (p.Pro325Leu) rs569320047 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.980A>C (p.Lys327Thr) rs747283184 0.00001
NM_181078.3(IL21R):c.1001T>C (p.Leu334Pro)
NM_181078.3(IL21R):c.1003C>A (p.Gln335Lys) rs954730051
NM_181078.3(IL21R):c.1013C>T (p.Ala338Val) rs2087529653
NM_181078.3(IL21R):c.1028C>G (p.Ser343Cys) rs2141318837
NM_181078.3(IL21R):c.1030G>C (p.Asp344His)
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.1075G>A (p.Gly359Arg)
NM_181078.3(IL21R):c.1076G>T (p.Gly359Val)
NM_181078.3(IL21R):c.10G>A (p.Gly4Ser)
NM_181078.3(IL21R):c.1105C>T (p.Arg369Trp) rs771285932
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.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.121A>G (p.Asn41Asp)
NM_181078.3(IL21R):c.1225_1226delinsAC (p.Glu409Thr) rs1567374926
NM_181078.3(IL21R):c.1243G>C (p.Glu415Gln) rs2087536408
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.1330A>G (p.Ser444Gly)
NM_181078.3(IL21R):c.1351C>T (p.Pro451Ser) rs757335123
NM_181078.3(IL21R):c.1360G>A (p.Ala454Thr) rs1309030719
NM_181078.3(IL21R):c.1363G>C (p.Asp455His)
NM_181078.3(IL21R):c.1415G>C (p.Gly472Ala) rs1399898216
NM_181078.3(IL21R):c.143C>A (p.Thr48Asn)
NM_181078.3(IL21R):c.1460T>G (p.Met487Arg) rs757464564
NM_181078.3(IL21R):c.1463A>G (p.Asp488Gly)
NM_181078.3(IL21R):c.1474A>G (p.Ser492Gly) rs2087542716
NM_181078.3(IL21R):c.1487G>T (p.Gly496Val) rs780769847
NM_181078.3(IL21R):c.1489T>C (p.Ser497Pro) rs1567375303
NM_181078.3(IL21R):c.149C>G (p.Thr50Ser) rs776178795
NM_181078.3(IL21R):c.1528C>T (p.Pro510Ser)
NM_181078.3(IL21R):c.1544C>A (p.Pro515His) rs546105423
NM_181078.3(IL21R):c.1544C>T (p.Pro515Leu) rs546105423
NM_181078.3(IL21R):c.1592C>T (p.Ser531Leu)
NM_181078.3(IL21R):c.1607A>G (p.Gln536Arg)
NM_181078.3(IL21R):c.17C>T (p.Ala6Val) rs577126383
NM_181078.3(IL21R):c.20C>G (p.Ala7Gly) rs559469718
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.359C>T (p.Pro120Leu)
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.481A>G (p.Arg161Gly) rs2087418017
NM_181078.3(IL21R):c.48A>G (p.Gly16=) rs768921476
NM_181078.3(IL21R):c.50-16C>A
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.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.611C>T (p.Pro204Leu) rs1240233597
NM_181078.3(IL21R):c.62C>T (p.Pro21Leu)
NM_181078.3(IL21R):c.680C>T (p.Ser227Leu)
NM_181078.3(IL21R):c.685+4G>C rs2141310113
NM_181078.3(IL21R):c.70G>A (p.Val24Ile)
NM_181078.3(IL21R):c.70G>T (p.Val24Phe) rs201895589
NM_181078.3(IL21R):c.715C>A (p.Leu239Met) rs2141311074
NM_181078.3(IL21R):c.776del (p.Pro259fs)
NM_181078.3(IL21R):c.787C>A (p.Leu263Ile)
NM_181078.3(IL21R):c.790T>C (p.Trp264Arg) rs2087470609
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.853A>C (p.Ser285Arg)
NM_181078.3(IL21R):c.875T>C (p.Val292Ala) rs1596599736
NM_181078.3(IL21R):c.910G>T (p.Gly304Ter) rs2087526618
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.947T>C (p.Val316Ala)
NM_181078.3(IL21R):c.970A>G (p.Ser324Gly)
NM_181078.3(IL21R):c.972C>A (p.Ser324Arg) rs2141318656
NM_181078.3(IL21R):c.983G>A (p.Arg328Lys)
NM_181078.3(IL21R):c.985C>G (p.Leu329Val)

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