ClinVar Miner

List of variants in gene HNF1B reported as uncertain significance for disorder of glycolysis

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_000458.4(HNF1B):c.*625C>T rs188957129 0.00154
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.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000458.4(HNF1B):c.*701G>A rs886052888 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.1654-9T>A rs200579660 0.00009
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.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 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.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000458.4(HNF1B):c.*789T>C rs886052887 0.00001
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) rs759270956 0.00001
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile) rs1199229728 0.00001
NM_000458.4(HNF1B):c.1630A>G (p.Thr544Ala) rs1352906725 0.00001
NM_000458.4(HNF1B):c.231C>G (p.Asp77Glu) rs760448993 0.00001
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr) rs772315985 0.00001
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000458.4(HNF1B):c.*409A>C rs2031989734
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.1008C>G (p.His336Gln)
NM_000458.4(HNF1B):c.1013A>G (p.Gln338Arg)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1033A>G (p.Asn345Asp)
NM_000458.4(HNF1B):c.1038G>A (p.Lys346=)
NM_000458.4(HNF1B):c.1046G>A (p.Gly349Glu)
NM_000458.4(HNF1B):c.1051C>T (p.Arg351Cys)
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro)
NM_000458.4(HNF1B):c.1100G>C (p.Ser367Thr)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1121T>C (p.Met374Thr)
NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile)
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
NM_000458.4(HNF1B):c.1167_1186del (p.Asp390fs)
NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)
NM_000458.4(HNF1B):c.116T>A (p.Phe39Tyr)
NM_000458.4(HNF1B):c.1196A>G (p.Asp399Gly)
NM_000458.4(HNF1B):c.1205T>C (p.Met402Thr)
NM_000458.4(HNF1B):c.1213G>C (p.Val405Leu)
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)
NM_000458.4(HNF1B):c.1312C>T (p.Leu438Phe)
NM_000458.4(HNF1B):c.1325T>A (p.Met442Lys)
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=) rs776536485
NM_000458.4(HNF1B):c.1363A>C (p.Ser455Arg)
NM_000458.4(HNF1B):c.1365T>G (p.Ser455Arg)
NM_000458.4(HNF1B):c.1370C>T (p.Pro457Leu)
NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly)
NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg) rs982085453
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.1399G>A (p.Ala467Thr)
NM_000458.4(HNF1B):c.1408C>A (p.Gln470Lys)
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg) rs886052891
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
NM_000458.4(HNF1B):c.1493A>C (p.Gln498Pro)
NM_000458.4(HNF1B):c.1501A>G (p.Met501Val)
NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val) rs2032548578
NM_000458.4(HNF1B):c.1507G>C (p.Ala503Pro)
NM_000458.4(HNF1B):c.150T>G (p.Pro50=) rs2034119944
NM_000458.4(HNF1B):c.1525A>C (p.Asn509His)
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)
NM_000458.4(HNF1B):c.1543C>T (p.His515Tyr)
NM_000458.4(HNF1B):c.1544A>G (p.His515Arg)
NM_000458.4(HNF1B):c.1562A>G (p.Gln521Arg)
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.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.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.171C>A (p.Asp57Glu)
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.191C>G (p.Thr64Ser)
NM_000458.4(HNF1B):c.193C>T (p.Leu65Phe)
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.229G>A (p.Asp77Asn)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.271A>G (p.Ile91Val)
NM_000458.4(HNF1B):c.27_29del (p.Gln10del)
NM_000458.4(HNF1B):c.282G>T (p.Glu94Asp)
NM_000458.4(HNF1B):c.305A>C (p.Glu102Ala)
NM_000458.4(HNF1B):c.309G>C (p.Ala103=) rs1197263675
NM_000458.4(HNF1B):c.311C>T (p.Ala104Val)
NM_000458.4(HNF1B):c.315G>T (p.Glu105Asp)
NM_000458.4(HNF1B):c.332A>G (p.Asp111Gly)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.377A>G (p.Lys126Arg)
NM_000458.4(HNF1B):c.385A>G (p.Met129Val)
NM_000458.4(HNF1B):c.438C>T (p.Asn146=) rs2033930573
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn) rs1568670646
NM_000458.4(HNF1B):c.477T>C (p.Pro159=) rs1212716750
NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=) rs764561297
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.536T>G (p.Ile179Ser)
NM_000458.4(HNF1B):c.538C>T (p.Leu180Phe)
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
NM_000458.4(HNF1B):c.544+5G>A
NM_000458.4(HNF1B):c.544+7G>A rs1004961534
NM_000458.4(HNF1B):c.544C>G (p.Gln182Glu)
NM_000458.4(HNF1B):c.68A>G (p.Lys23Arg)
NM_000458.4(HNF1B):c.78G>T (p.Leu26=)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000458.4(HNF1B):c.89T>C (p.Leu30Ser)
NM_000458.4(HNF1B):c.907C>T (p.Arg303Cys)
NM_000458.4(HNF1B):c.908G>A (p.Arg303His) rs2033692404
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp) rs988279557
NM_000458.4(HNF1B):c.949G>A (p.Ala317Thr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.953A>G (p.Tyr318Cys)
NM_000458.4(HNF1B):c.961A>G (p.Asn321Asp) rs1208894321
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe)
NM_000458.4(HNF1B):c.995A>G (p.His332Arg)
NM_000458.4(HNF1B):c.997G>A (p.Gly333Ser)

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