ClinVar Miner

List of variants in gene HNF1A reported as uncertain significance for Monogenic diabetes

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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.-258A>G rs756136537 0.00015
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_000545.8(HNF1A):c.42G>A (p.Ala14=) rs775391034 0.00007
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=) rs746020457 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val) rs924150546 0.00002
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.833G>A (p.Arg278Gln) rs760640415 0.00002
NM_000545.8(HNF1A):c.-187C>T rs970766228 0.00001
NM_000545.8(HNF1A):c.-218T>C rs1024131753 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.1521C>A (p.Pro507=) rs977750039 0.00001
NM_000545.8(HNF1A):c.1768G>A (p.Val590Met) rs1168108747 0.00001
NM_000545.8(HNF1A):c.203G>A (p.Arg68Gln) rs188085301 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr) rs587778396 0.00001
NM_000545.8(HNF1A):c.-187C>A rs970766228
NM_000545.8(HNF1A):c.1114G>A (p.Ala372Thr) rs587780356
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1168G>C (p.Glu390Gln) rs1877115047
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.8(HNF1A):c.1295C>A (p.Ser432Tyr)
NM_000545.8(HNF1A):c.1295C>G (p.Ser432Cys)
NM_000545.8(HNF1A):c.1295C>T (p.Ser432Phe)
NM_000545.8(HNF1A):c.137A>C (p.Lys46Thr) rs2135819731
NM_000545.8(HNF1A):c.139G>A (p.Gly47Arg) rs373180062
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1481C>T (p.Ala494Val)
NM_000545.8(HNF1A):c.14T>G (p.Leu5Arg) rs188016232
NM_000545.8(HNF1A):c.1501+5G>C rs1399164820
NM_000545.8(HNF1A):c.1505T>A (p.Leu502His) rs2135850526
NM_000545.8(HNF1A):c.152G>T (p.Gly51Val) rs776710848
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met) rs745460046
NM_000545.8(HNF1A):c.1548C>T (p.Gly516=) rs886038346
NM_000545.8(HNF1A):c.1576G>T (p.Asp526Tyr)
NM_000545.8(HNF1A):c.1623+3A>G rs886038347
NM_000545.8(HNF1A):c.1768+11C>T rs886049034
NM_000545.8(HNF1A):c.1768+65dup rs193922590
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu) rs2135819938
NM_000545.8(HNF1A):c.202C>T (p.Arg68Trp) rs779442858
NM_000545.8(HNF1A):c.225C>A (p.Asp75Glu) rs202180554
NM_000545.8(HNF1A):c.225C>G (p.Asp75Glu) rs202180554
NM_000545.8(HNF1A):c.22C>A (p.Leu8Met) rs2135819378
NM_000545.8(HNF1A):c.26A>C (p.Gln9Pro) rs1876081310
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg) rs1876081310
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.323T>C (p.Leu108Pro) rs2135820418
NM_000545.8(HNF1A):c.326+2dup rs2135820427
NM_000545.8(HNF1A):c.326+4A>G rs193922595
NM_000545.8(HNF1A):c.327-14T>C rs886049033
NM_000545.8(HNF1A):c.332A>G (p.Asp111Gly)
NM_000545.8(HNF1A):c.35T>A (p.Leu12His) rs2135819422
NM_000545.8(HNF1A):c.35T>C (p.Leu12Pro) rs2135819422
NM_000545.8(HNF1A):c.364T>C (p.Tyr122His) rs2135832520
NM_000545.8(HNF1A):c.368T>C (p.Leu123Pro) rs2135832538
NM_000545.8(HNF1A):c.368T>G (p.Leu123Arg) rs2135832538
NM_000545.8(HNF1A):c.382A>G (p.Ile128Val) rs1876669657
NM_000545.8(HNF1A):c.383T>A (p.Ile128Asn) rs2135832570
NM_000545.8(HNF1A):c.385C>A (p.Pro129Thr) rs1876669818
NM_000545.8(HNF1A):c.397G>T (p.Val133Leu) rs2135832611
NM_000545.8(HNF1A):c.403G>A (p.Asp135Asn) rs1876671241
NM_000545.8(HNF1A):c.410C>G (p.Thr137Ser) rs1876671890
NM_000545.8(HNF1A):c.412G>A (p.Gly138Ser) rs2135832646
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val) rs772214801
NM_000545.8(HNF1A):c.425C>A (p.Ser142Tyr) rs2135832668
NM_000545.8(HNF1A):c.433T>C (p.Ser145Pro) rs1248375417
NM_000545.8(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.8(HNF1A):c.44C>T (p.Ala15Val) rs2135819440
NM_000545.8(HNF1A):c.46C>G (p.Leu16Val) rs2135819447
NM_000545.8(HNF1A):c.47T>C (p.Leu16Pro) rs2135819448
NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro) rs1555211434
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.49C>G (p.Leu17Val) rs1876083246
NM_000545.8(HNF1A):c.503G>C (p.Arg168Pro)
NM_000545.8(HNF1A):c.526+2dup rs1555211448
NM_000545.8(HNF1A):c.539C>G (p.Ala180Gly)
NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala) rs1064793150
NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu) rs1876084584
NM_000545.8(HNF1A):c.613A>C (p.Lys205Gln) rs2135839309
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg) rs1057524898
NM_000545.8(HNF1A):c.618G>C (p.Trp206Cys) rs2135839338
NM_000545.8(HNF1A):c.650C>G (p.Ala217Gly) rs2135839548
NM_000545.8(HNF1A):c.66C>G (p.Ser22Arg)
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.682G>A (p.Glu228Lys) rs747416693
NM_000545.8(HNF1A):c.683A>G (p.Glu228Gly) rs2135839809
NM_000545.8(HNF1A):c.710A>C (p.Asn237Thr) rs1555211935
NM_000545.8(HNF1A):c.711_713del (p.Asn237_Arg238delinsLys) rs2135840027
NM_000545.8(HNF1A):c.722G>A (p.Cys241Tyr) rs2135841113
NM_000545.8(HNF1A):c.725T>C (p.Ile242Thr) rs2135841137
NM_000545.8(HNF1A):c.727C>G (p.Gln243Glu)
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.732A>T (p.Arg244Ser) rs2135841190
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg) rs2135841196
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala) rs2135841238
NM_000545.8(HNF1A):c.73G>A (p.Ala25Thr) rs587778394
NM_000545.8(HNF1A):c.73G>C (p.Ala25Pro) rs587778394
NM_000545.8(HNF1A):c.745T>C (p.Ser249Pro) rs2135841315
NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro) rs1555211982
NM_000545.8(HNF1A):c.760C>A (p.Leu254Met) rs2135841451
NM_000545.8(HNF1A):c.761T>A (p.Leu254Gln) rs2135841460
NM_000545.8(HNF1A):c.763G>A (p.Gly255Ser) rs2135841479
NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe) rs1555211986
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys) rs1555212006
NM_000545.8(HNF1A):c.797A>G (p.Asn266Ser) rs2135841726
NM_000545.8(HNF1A):c.798C>G (p.Asn266Lys) rs2135841730
NM_000545.8(HNF1A):c.801_802insGGG (p.Trp267_Phe268insGly) rs1555212009
NM_000545.8(HNF1A):c.80T>C (p.Ile27Thr) rs2135819576
NM_000545.8(HNF1A):c.80T>G (p.Ile27Ser) rs2135819576
NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln) rs1555212016
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro) rs1876087643
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.866C>A (p.Pro289His) rs267603343
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg) rs267603343
NM_000545.8(HNF1A):c.870C>T (p.Pro290=) rs779008957
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala) rs151256267
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000545.8(HNF1A):c.98C>G (p.Pro33Arg) rs1001854457
Single allele rs2135818764

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