ClinVar Miner

List of variants in gene HNF1B studied for Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser) rs187556368 0.00201
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr) rs147798914 0.00016
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000458.4(HNF1B):c.1534+10C>T rs368168569 0.00007
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe) rs544890850 0.00005
NM_000458.4(HNF1B):c.1033A>G (p.Asn345Asp) rs755951130 0.00003
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000458.4(HNF1B):c.953A>G (p.Tyr318Cys) rs752340487 0.00003
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu) rs193922483 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=) rs764561297 0.00002
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln) rs776195231 0.00002
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 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.191C>G (p.Thr64Ser) rs750176807 0.00001
NM_000458.4(HNF1B):c.231C>G (p.Asp77Glu) rs760448993 0.00001
NM_000458.4(HNF1B):c.305A>C (p.Glu102Ala) rs982165538 0.00001
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe) rs1285239018 0.00001
NM_000458.4(HNF1B):c.66C>A (p.Thr22=) rs906719754 0.00001
NM_000458.4(HNF1B):c.78G>T (p.Leu26=) rs757790704 0.00001
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe) rs763078496 0.00001
NM_000458.4(HNF1B):c.*73G>A
NM_000458.4(HNF1B):c.1000_1001insA (p.Ser334fs)
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn) rs138986885
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) rs138986885
NM_000458.4(HNF1B):c.1013A>G (p.Gln338Arg)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro) rs1282596664
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.1056_1057del (p.Tyr352_Ser353delinsTer)
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His) rs202109472
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs) rs2511723972
NM_000458.4(HNF1B):c.1121T>C (p.Met374Thr)
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.116T>A (p.Phe39Tyr)
NM_000458.4(HNF1B):c.1196A>G (p.Asp399Gly)
NM_000458.4(HNF1B):c.1213G>C (p.Val405Leu)
NM_000458.4(HNF1B):c.1365T>G (p.Ser455Arg)
NM_000458.4(HNF1B):c.1399G>A (p.Ala467Thr)
NM_000458.4(HNF1B):c.1406_1413del (p.Leu469fs)
NM_000458.4(HNF1B):c.1493A>C (p.Gln498Pro)
NM_000458.4(HNF1B):c.1507G>C (p.Ala503Pro)
NM_000458.4(HNF1B):c.1525A>C (p.Asn509His) rs2511700041
NM_000458.4(HNF1B):c.1543C>T (p.His515Tyr) rs1188569241
NM_000458.4(HNF1B):c.1544A>G (p.His515Arg)
NM_000458.4(HNF1B):c.1562A>G (p.Gln521Arg)
NM_000458.4(HNF1B):c.171C>A (p.Asp57Glu)
NM_000458.4(HNF1B):c.193C>T (p.Leu65Phe)
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) rs2511850923
NM_000458.4(HNF1B):c.315G>T (p.Glu105Asp)
NM_000458.4(HNF1B):c.332A>G (p.Asp111Gly) rs1311605355
NM_000458.4(HNF1B):c.33_34del (p.Glu11fs)
NM_000458.4(HNF1B):c.345-2A>G rs2511830105
NM_000458.4(HNF1B):c.377A>G (p.Lys126Arg)
NM_000458.4(HNF1B):c.381_382del (p.Tyr128fs)
NM_000458.4(HNF1B):c.385A>G (p.Met129Val)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu) rs121918674
NM_000458.4(HNF1B):c.454C>T (p.Gln152Ter)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) rs193922489
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.514del (p.Tyr172fs)
NM_000458.4(HNF1B):c.521_527del (p.Arg174fs)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter) rs1800575
NM_000458.4(HNF1B):c.538C>T (p.Leu180Phe)
NM_000458.4(HNF1B):c.538_541del (p.Leu180fs)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter) rs1057517744
NM_000458.4(HNF1B):c.544+14T>A rs759120365
NM_000458.4(HNF1B):c.544+1G>A rs1568670479
NM_000458.4(HNF1B):c.544+5G>A rs2511827891
NM_000458.4(HNF1B):c.544C>G (p.Gln182Glu)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) rs1568670481
NM_000458.4(HNF1B):c.68A>G (p.Lys23Arg) rs2511853122
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter) rs121918672
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln) rs2511802259
NM_000458.4(HNF1B):c.831G>A (p.Gly277=) rs199797518
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp) rs2511801868
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000458.4(HNF1B):c.891C>A (p.Tyr297Ter)
NM_000458.4(HNF1B):c.908G>A (p.Arg303His) rs2033692404
NM_000458.4(HNF1B):c.949G>A (p.Ala317Thr)
NM_000458.4(HNF1B):c.995A>G (p.His332Arg)
NM_000458.4(HNF1B):c.997G>A (p.Gly333Ser)

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