ClinVar Miner

List of variants in gene HNF1B reported as pathogenic for Renal cysts and diabetes syndrome

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Total variants: 139
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HGVS dbSNP gnomAD frequency
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.1006del (p.His336fs)
NM_000458.4(HNF1B):c.1006dup (p.His336fs) rs1598840795
NM_000458.4(HNF1B):c.1009dup (p.His337fs) rs1598840773
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.1055dup (p.Tyr352Ter)
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
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.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.1258dup (p.His420fs) rs1598809697
NM_000458.4(HNF1B):c.1299del (p.Ile434fs)
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)
NM_000458.4(HNF1B):c.1333_1334del (p.Ala445fs) rs2147457839
NM_000458.4(HNF1B):c.1339+1G>A
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.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.1429C>T (p.Gln477Ter)
NM_000458.4(HNF1B):c.143del (p.Leu48fs)
NM_000458.4(HNF1B):c.1517del (p.Gln506fs)
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs) rs764042837
NM_000458.4(HNF1B):c.1654-2A>T
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.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) rs1555833071
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter) rs2034113963
NM_000458.4(HNF1B):c.252del (p.Asp84fs)
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.322del (p.Ala108fs)
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs) rs1598854261
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.345-1G>A
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.353del (p.Pro118fs)
NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter)
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.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.439C>T (p.Gln147Ter)
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.457C>A (p.His153Asn)
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.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.478A>G (p.Met160Val)
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.495_496del (p.Ala166fs) rs2033927631
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs) rs1598848672
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His)
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)
NM_000458.4(HNF1B):c.515del (p.Tyr172fs)
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.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+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.811_1045+1del
NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter)
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.854G>A (p.Gly285Asp)
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.931C>T (p.Gln311Ter)
NM_000458.4(HNF1B):c.949del (p.Ala317fs)
NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter)
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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