ClinVar Miner

List of variants in gene HNF1B studied for Renal cysts and diabetes syndrome

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Gene type:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.*100= rs1555818000 0.80645
NM_000458.4(HNF1B):c.1654-22= rs3110641 0.67606
NM_000458.4(HNF1B):c.*444= rs2688 0.58526
NM_000458.4(HNF1B):c.*274= rs2689 0.38166
NM_000458.4(HNF1B):c.*99C>A rs2229295 0.27047
NM_000458.4(HNF1B):c.*924C>G rs10962 0.22156
NM_000458.4(HNF1B):c.*384A>G rs1058166 0.17933
NM_000458.4(HNF1B):c.*777G>A rs17138512 0.02929
NM_000458.4(HNF1B):c.*47T>G rs8068014 0.02908
NM_000458.4(HNF1B):c.*804T>C rs75361710 0.01316
NM_000458.4(HNF1B):c.345-19C>T rs59527848 0.00765
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_000458.4(HNF1B):c.-67C>T rs140699244 0.00491
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_000458.4(HNF1B):c.*659G>A rs182736930 0.00215
NM_000458.4(HNF1B):c.*625C>T rs188957129 0.00154
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000458.4(HNF1B):c.*683G>A rs144234352 0.00126
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000458.4(HNF1B):c.*691A>G rs751817675 0.00064
NM_000458.4(HNF1B):c.*445A>G rs571607314 0.00029
NM_000458.4(HNF1B):c.*629C>T rs566057658 0.00026
NM_000458.4(HNF1B):c.*403A>G rs557216745 0.00016
NM_000458.3(HNF1B):c.-232C>T rs142612536 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000458.4(HNF1B):c.-82G>T rs886052892 0.00013
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000458.4(HNF1B):c.*701G>A rs886052888 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.*88A>G rs762266343 0.00003
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000458.4(HNF1B):c.9C>T (p.Ser3=) rs773256244 0.00003
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000458.4(HNF1B):c.*789T>C rs886052887 0.00001
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr) rs772315985 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
HNF1B, 1-BP DEL
HNF1B, EX5DUP
NM_000458.3(HNF1B):c.1046del
NM_000458.3:c.1046_*941del
NM_000458.3:c.1046_1674del
NM_000458.3:c.1_1045del
NM_000458.3:c.1_809del
NM_000458.3:c.545_1045del
NM_000458.4(HNF1B):c.*409A>G rs2031989734
NM_000458.4(HNF1B):c.*585T>C rs886052889
NM_000458.4(HNF1B):c.*938A>G rs574000398
NM_000458.4(HNF1B):c.-14dup rs193922481
NM_000458.4(HNF1B):c.-31C>G rs771697321
NM_000458.4(HNF1B):c.-36del rs756559188
NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe) rs776928989
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1006del (p.His336fs)
NM_000458.4(HNF1B):c.1006dup (p.His336fs) rs1598840795
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
NM_000458.4(HNF1B):c.1009dup (p.His337fs) rs1598840773
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1046-294_1206+704delinsGGTTTAAGGCACTACATTTTTTGGGAAGGACAGAAATCATGAAGTTAAAAGGAGG
NM_000458.4(HNF1B):c.1046-2A>G
NM_000458.4(HNF1B):c.1047_1206+1del
NM_000458.4(HNF1B):c.1047_1206+1dup
NM_000458.4(HNF1B):c.1048dup (p.Val350fs)
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.110dup (p.Asn38fs) rs1598854747
NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs) rs1598815016
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs) rs1057519371
NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter)
NM_000458.4(HNF1B):c.1138del (p.Val380fs)
NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter)
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)
NM_000458.4(HNF1B):c.1206+1G>A
NM_000458.4(HNF1B):c.1206+1G>C
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer) rs1555833144
NM_000458.4(HNF1B):c.1235dup (p.Val413fs) rs1598809747
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
NM_000458.4(HNF1B):c.1258dup (p.His420fs) rs1598809697
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.1299del (p.Ile434fs)
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.1333_1334del (p.Ala445fs) rs2147457839
NM_000458.4(HNF1B):c.1339+1G>A
NM_000458.4(HNF1B):c.1340-3C>G rs2032559501
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)
NM_000458.4(HNF1B):c.1360_1361del (p.Gln454fs)
NM_000458.4(HNF1B):c.1363_1364del (p.Ser455fs)
NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg) rs982085453
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs) rs1598806177
NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg) rs886052891
NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
NM_000458.4(HNF1B):c.143del (p.Leu48fs)
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val) rs2032548578
NM_000458.4(HNF1B):c.150T>G (p.Pro50=) rs2034119944
NM_000458.4(HNF1B):c.1517del (p.Gln506fs)
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs) rs764042837
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
NM_000458.4(HNF1B):c.1654-11T>C rs193922484
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000458.4(HNF1B):c.1654-14CT[4] rs886052890
NM_000458.4(HNF1B):c.1654-2A>T
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.187del (p.His63fs) rs2034117925
NM_000458.4(HNF1B):c.18del (p.Ser7fs)
NM_000458.4(HNF1B):c.206_207del (p.His69fs)
NM_000458.4(HNF1B):c.207_211del (p.His69fs)
NM_000458.4(HNF1B):c.211_217del (p.Lys71fs)
NM_000458.4(HNF1B):c.215del (p.Gly72fs)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) rs1555833071
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter) rs2034113963
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
NM_000458.4(HNF1B):c.252del (p.Asp84fs)
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter)
NM_000458.4(HNF1B):c.280del (p.Glu94fs)
NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs)
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)
NM_000458.4(HNF1B):c.309G>C (p.Ala103=) rs1197263675
NM_000458.4(HNF1B):c.322del (p.Ala108fs)
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs) rs1598854261
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro)
NM_000458.4(HNF1B):c.335_342del (p.Arg112fs)
NM_000458.4(HNF1B):c.344+1G>A
NM_000458.4(HNF1B):c.344+2T>C
NM_000458.4(HNF1B):c.344+2_344+5del
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>A
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.345-2A>G
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.353del (p.Pro118fs)
NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter)
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
NM_000458.4(HNF1B):c.374T>C (p.Ile125Thr)
NM_000458.4(HNF1B):c.386_392del (p.Met129fs)
NM_000458.4(HNF1B):c.391C>T (p.Gln131Ter)
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
NM_000458.4(HNF1B):c.398A>G (p.Asn133Ser)
NM_000458.4(HNF1B):c.3G>A (p.Met1Ile)
NM_000458.4(HNF1B):c.3G>T (p.Met1Ile)
NM_000458.4(HNF1B):c.406C>G (p.Gln136Glu)
NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter)
NM_000458.4(HNF1B):c.406dup (p.Gln136fs) rs886041820
NM_000458.4(HNF1B):c.410_484del (p.Arg137_Lys161del)
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)
NM_000458.4(HNF1B):c.438C>T (p.Asn146=) rs2033930573
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
NM_000458.4(HNF1B):c.457C>A (p.His153Asn)
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
NM_000458.4(HNF1B):c.466A>G (p.Lys156Glu)
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
NM_000458.4(HNF1B):c.471del (p.Thr158fs)
NM_000458.4(HNF1B):c.472_473insTGCAGCCC (p.Thr158fs)
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn) rs1568670646
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
NM_000458.4(HNF1B):c.477T>C (p.Pro159=) rs1212716750
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.478A>G (p.Met160Val)
NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)
NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)
NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter) rs2033928772
NM_000458.4(HNF1B):c.484del (p.Thr162fs)
NM_000458.4(HNF1B):c.487del (p.Gln163fs)
NM_000458.4(HNF1B):c.490A>C (p.Lys164Gln)
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
NM_000458.4(HNF1B):c.495_496del (p.Ala166fs) rs2033927631
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs) rs1598848672
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
NM_000458.4(HNF1B):c.515del (p.Tyr172fs)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
NM_000458.4(HNF1B):c.522_525del (p.Arg174fs)
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.534del (p.Ile179fs)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
NM_000458.4(HNF1B):c.544+1G>A
NM_000458.4(HNF1B):c.544+1G>C
NM_000458.4(HNF1B):c.544+1G>T
NM_000458.4(HNF1B):c.544+2_544+3dup
NM_000458.4(HNF1B):c.544+2dup
NM_000458.4(HNF1B):c.544+3_544+4insT
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.61dup (p.Val21fs) rs2034124973
NM_000458.4(HNF1B):c.70del (p.Glu24fs)
NM_000458.4(HNF1B):c.810-2A>C
NM_000458.4(HNF1B):c.810-4C>G
NM_000458.4(HNF1B):c.811_1045+1del
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter)
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
NM_000458.4(HNF1B):c.840del (p.Ser281fs)
NM_000458.4(HNF1B):c.840dup (p.Ser281fs) rs1598841082
NM_000458.4(HNF1B):c.850del (p.His284fs)
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp)
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter)
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) rs1598840996
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
NM_000458.4(HNF1B):c.908G>A (p.Arg303His) rs2033692404
NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly) rs2033692285
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp) rs988279557
NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter)
NM_000458.4(HNF1B):c.935dup (p.Leu313fs)
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.949del (p.Ala317fs)
NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000458.4(HNF1B):c.967dup (p.Thr323fs)
NM_000458.4(HNF1B):c.972_973del (p.His324fs)
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
NM_000458.4(HNF1B):c.983del (p.Pro328fs)
NM_000458.4:c.(?_-1)_(*1_?)del
NM_000458.4:c.(?_-1)_(544+1_545-1)del
NM_000458.4:c.810_1045del

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