ClinVar Miner

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

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Total variants: 217
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HGVS dbSNP
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.1006C>G (p.His336Asp) rs138986885
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) rs138986885
NM_000458.4(HNF1B):c.1006del (p.His336fs)
NM_000458.4(HNF1B):c.1006dup (p.His336fs)
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
NM_000458.4(HNF1B):c.1009dup (p.His337fs)
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.1046del (p.Gly349Glufs)
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) rs1568645768
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) rs113042313
NM_000458.4(HNF1B):c.110dup (p.Asn38fs)
NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs)
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.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)
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
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) rs193922482
NM_000458.4(HNF1B):c.1339+1G>A
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
NM_000458.4(HNF1B):c.1358_1359CA[1] (p.Gln454fs)
NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)
NM_000458.4(HNF1B):c.1361_1362AG[1] (p.Ser455fs)
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg) rs121918673
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)
NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu) rs193922483
NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)
NM_000458.4(HNF1B):c.143del (p.Leu48fs)
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser) rs187556368
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
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) rs1057524479
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs)
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln) rs758130759
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
NM_000458.4(HNF1B):c.1654-2A>T
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr) rs147798914
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly) rs147816724
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.221T>A (p.Leu74Ter) rs193922486
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830
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.244G>A (p.Asp82Asn) rs140562402
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.280del (p.Glu94fs)
NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs)
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter) rs121918671
NM_000458.4(HNF1B):c.322del (p.Ala108fs)
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs)
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 rs1555832998
NM_000458.4(HNF1B):c.344+2T>C
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn) rs193922487
NM_000458.4(HNF1B):c.345-1G>A
NM_000458.4(HNF1B):c.345-1G>T rs193922488
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.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.439C>T (p.Gln147Ter) rs1568670702
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp) rs121918674
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) rs587776771
NM_000458.4(HNF1B):c.471del (p.Thr158fs)
NM_000458.4(HNF1B):c.472_473insTGCAGCCC (p.Thr158fs)
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) rs193922489
NM_000458.4(HNF1B):c.478A>G (p.Met160Val)
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) rs121918675
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs)
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg) rs193922490
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter) rs1568670533
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
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) rs1800575
NM_000458.4(HNF1B):c.534del (p.Ile179fs)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter) rs1057517744
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
NM_000458.4(HNF1B):c.544+1G>A rs1568670479
NM_000458.4(HNF1B):c.544+1G>C
NM_000458.4(HNF1B):c.544+1G>T rs1568670479
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) rs1568670481
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg)
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs) rs1568665905
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) rs202151409
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp) rs193922491
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.708C>T (p.Phe236=)
NM_000458.4(HNF1B):c.70del (p.Glu24fs)
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
NM_000458.4(HNF1B):c.715G>C (p.Gly239Arg)
NM_000458.4(HNF1B):c.715_717del (p.Gly239del)
NM_000458.4(HNF1B):c.716G>A (p.Gly239Glu)
NM_000458.4(HNF1B):c.717del (p.Ala241fs)
NM_000458.4(HNF1B):c.717dup (p.Pro240fs)
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs)
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr) rs761415487
NM_000458.4(HNF1B):c.727del (p.Gln243fs)
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter)
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro) rs529294719
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) rs536638039
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs)
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer) rs1568665590
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
NM_000458.4(HNF1B):c.809+1G>A
NM_000458.4(HNF1B):c.809+1G>T rs1555830002
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) rs121918672
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)
NM_000458.4(HNF1B):c.850del (p.His284fs)
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser) rs914046953
NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp)
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
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) rs886043813
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.904A>G (p.Asn302Asp)
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter)
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser) rs193922492
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) rs193922493
NM_000458.4(HNF1B):c.967dup (p.Thr323fs)
NM_000458.4(HNF1B):c.970_971CA[1] (p.His324fs)
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
NM_000458.4(HNF1B):c.983del (p.Pro328fs)

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