ClinVar Miner

List of variants in gene HNF1A reported as likely pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00006
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.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg) rs368683806 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NG_011731.2:g.4741A>C rs2135818776
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) rs1593060859
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1139del (p.Val380fs) rs1877113317
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs) rs1593060912
NM_000545.8(HNF1A):c.1193A>C (p.Gln398Pro)
NM_000545.8(HNF1A):c.1264del (p.Leu422fs)
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1310-1G>A rs1877168655
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs) rs2135847490
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.1369_1384dup (p.Val462fs) rs2135847592
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs) rs2135819737
NM_000545.8(HNF1A):c.142del (p.Glu48fs) rs1566092470
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs) rs1877180449
NM_000545.8(HNF1A):c.1469T>G (p.Met490Arg)
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1501+1G>T rs1131692182
NM_000545.8(HNF1A):c.1501+4A>G
NM_000545.8(HNF1A):c.1501+5G>C rs1399164820
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs) rs193922582
NM_000545.8(HNF1A):c.1541dup (p.His514fs) rs1877293842
NM_000545.8(HNF1A):c.1614_1617del (p.Thr539fs)
NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)
NM_000545.8(HNF1A):c.1624-2A>G rs1877309778
NM_000545.8(HNF1A):c.1637_1647del (p.Asp546fs)
NM_000545.8(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.8(HNF1A):c.16A>T (p.Ser6Cys) rs2135819349
NM_000545.8(HNF1A):c.1720_1733delinsGGCATCCAGCACC (p.Ser574fs) rs587778399
NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs) rs1592898255
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
NM_000545.8(HNF1A):c.1768+1G>A rs1877324101
NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn) rs2135819354
NM_000545.8(HNF1A):c.186del (p.Asn62fs) rs2135819908
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu) rs2135819938
NM_000545.8(HNF1A):c.1A>C (p.Met1Leu) rs193922592
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.206del (p.Gly69fs) rs2135819979
NM_000545.8(HNF1A):c.217G>T (p.Glu73Ter) rs905788991
NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup) rs2135819368
NM_000545.8(HNF1A):c.259A>T (p.Lys87Ter) rs2135820197
NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu) rs1876081310
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.282dup (p.Glu95Ter) rs2135820267
NM_000545.8(HNF1A):c.28A>C (p.Thr10Pro) rs2135819400
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.8(HNF1A):c.319C>A (p.Leu107Ile) rs2135820404
NM_000545.8(HNF1A):c.320T>C (p.Leu107Pro) rs2135820413
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg) rs2135820413
NM_000545.8(HNF1A):c.326+2T>G rs1555210478
NM_000545.8(HNF1A):c.327-2A>T rs2135832423
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.342dup (p.Val115fs) rs2135832474
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.34C>G (p.Leu12Val) rs1275805852
NM_000545.8(HNF1A):c.34C>T (p.Leu12Phe) rs1275805852
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
NM_000545.8(HNF1A):c.35T>G (p.Leu12Arg) rs2135819422
NM_000545.8(HNF1A):c.360G>C (p.Lys120Asn)
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.367C>G (p.Leu123Val) rs1876669134
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.377ACA[1] (p.Asn127del) rs2135832562
NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu) rs753998395
NM_000545.8(HNF1A):c.397G>A (p.Val133Met) rs2135832611
NM_000545.8(HNF1A):c.399_405del (p.Val134fs) rs2135832615
NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala) rs1876671395
NM_000545.8(HNF1A):c.404del (p.Asp135fs) rs2135832632
NM_000545.8(HNF1A):c.427del (p.His143fs) rs2135832675
NM_000545.8(HNF1A):c.429C>G (p.His143Gln) rs2135832689
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser) rs1265717222
NM_000545.8(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.8(HNF1A):c.467C>A (p.Thr156Lys) rs150513055
NM_000545.8(HNF1A):c.475C>G (p.Arg159Gly) rs765432081
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.494G>T (p.Trp165Leu)
NM_000545.8(HNF1A):c.4del (p.Val2fs) rs1555260207
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) rs1057520291
NM_000545.8(HNF1A):c.517G>A (p.Val173Met)
NM_000545.8(HNF1A):c.518_526+37del rs386134267
NM_000545.8(HNF1A):c.523C>T (p.Gln175Ter)
NM_000545.8(HNF1A):c.526+5G>A
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.527-1G>C
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.58G>C (p.Gly20Arg) rs1249563793
NM_000545.8(HNF1A):c.59G>A (p.Gly20Glu) rs1566092362
NM_000545.8(HNF1A):c.59G>C (p.Gly20Ala) rs1566092362
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser) rs1180119907
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg) rs1057524898
NM_000545.8(HNF1A):c.619G>T (p.Gly207Cys) rs2135839346
NM_000545.8(HNF1A):c.639C>G (p.Ile213Met) rs768753432
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter) rs2135839643
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del) rs193922599
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) rs193922600
NM_000545.8(HNF1A):c.676A>G (p.Lys226Glu)
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.685C>G (p.Arg229Gly) rs769086289
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
NM_000545.8(HNF1A):c.696dup (p.Val233fs) rs2135839892
NM_000545.8(HNF1A):c.697G>T (p.Val233Leu)
NM_000545.8(HNF1A):c.709A>C (p.Asn237His) rs2135839997
NM_000545.8(HNF1A):c.709A>G (p.Asn237Asp) rs2135839997
NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser) rs1555211935
NM_000545.8(HNF1A):c.714-1G>A rs1463923467
NM_000545.8(HNF1A):c.721T>C (p.Cys241Arg) rs2135841104
NM_000545.8(HNF1A):c.721T>G (p.Cys241Gly) rs2135841104
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) rs1555211975
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly) rs2135841238
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) rs1308016430
NM_000545.8(HNF1A):c.779C>A (p.Thr260Lys)
NM_000545.8(HNF1A):c.779C>G (p.Thr260Arg)
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.77T>C (p.Leu26Pro) rs2135819552
NM_000545.8(HNF1A):c.781G>A (p.Glu261Lys) rs2135841592
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.8(HNF1A):c.790_791del (p.Val264fs) rs1555211999
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.802T>A (p.Phe268Ile) rs2135841769
NM_000545.8(HNF1A):c.802T>C (p.Phe268Leu) rs2135841769
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly) rs886039386
NM_000545.8(HNF1A):c.811del (p.Arg271fs) rs2135841855
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.82C>T (p.Gln28Ter) rs2135819583
NM_000545.8(HNF1A):c.864_897del (p.Pro290fs) rs1565885935
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.864dup (p.Pro289fs) rs762703502
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000545.8(HNF1A):c.955+2T>C
NM_000545.8(HNF1A):c.955+2dup
NM_000545.8(HNF1A):c.955+5G>C
NM_000545.8(HNF1A):c.98C>T (p.Pro33Leu) rs1001854457

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