ClinVar Miner

List of variants in gene HNF1B reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
Download table as spreadsheet
HGVS dbSNP
HNF1B, 1-BP DEL
HNF1B, 5-BP DEL
HNF1B, 75-BP DEL, NT409
HNF1B, EX5DUP
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)
NM_000458.4(HNF1B):c.1009dup (p.His337fs)
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.1055dup (p.Tyr352Ter) rs1568645768
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
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.1299del (p.Ile434fs)
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)
NM_000458.4(HNF1B):c.1339+1G>A
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.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) rs1057524479
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs)
NM_000458.4(HNF1B):c.1654-2A>T
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.230_233del (p.Asp77fs) rs1555833071
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
NM_000458.4(HNF1B):c.252del (p.Asp84fs)
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.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.345-1G>A
NM_000458.4(HNF1B):c.345-1G>T rs193922488
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) 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.457C>A (p.His153Asn)
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.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.499_504delinsCCCCT (p.Ala167fs)
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His)
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter) rs1568670533
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.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.544C>T (p.Gln182Ter) rs1568670481
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs) rs1568665905
NM_000458.4(HNF1B):c.70del (p.Glu24fs)
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.727del (p.Gln243fs)
NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter)
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs)
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer) rs1568665590
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.811_1045+1del
NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter)
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.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) rs886043813
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.970_971CA[1] (p.His324fs)
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
NM_000458.4(HNF1B):c.983del (p.Pro328fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.