ClinVar Miner

List of variants in gene HNF1A reported as pathogenic for monogenic diabetes

Included ClinVar conditions (61):
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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720= (p.Ser574=) rs1169305 0.01390
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.1592G>C (p.Ser531Thr) rs137853246 0.00002
NM_000545.8(HNF1A):c.1136C>G (p.Pro379Arg) rs371717826 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 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.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NG_011731.2:g.4741A>C rs2135818776
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.-119del rs754470733
NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer) rs1877096238
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
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.1137dup (p.Val380fs) rs2135845908
NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer) rs1593060966
NM_000545.8(HNF1A):c.1207del (p.Leu403fs)
NM_000545.8(HNF1A):c.121G>T (p.Glu41Ter) rs2135819670
NM_000545.8(HNF1A):c.129_130delinsA (p.Leu44fs) rs2135819704
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1324C>T (p.Gln442Ter)
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.1333_1334del (p.Ser445fs) rs2135847417
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.1378C>T (p.Gln460Ter) rs1555212363
NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter) rs1877175078
NM_000545.8(HNF1A):c.1417C>T (p.Gln473Ter)
NM_000545.8(HNF1A):c.142del (p.Glu48fs) rs1566092470
NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)
NM_000545.8(HNF1A):c.1456del (p.Gln486fs)
NM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter) rs1565887211
NM_000545.8(HNF1A):c.1487_1494del (p.Leu496fs)
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter) rs1555212396
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
NM_000545.8(HNF1A):c.1516_1624-30del rs1592897526
NM_000545.8(HNF1A):c.1531C>G (p.Gln511Glu) rs551484245
NM_000545.8(HNF1A):c.1541dup (p.His514fs) rs1877293842
NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly) rs766956862
NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter) rs766956862
NM_000545.8(HNF1A):c.1623+1G>A rs2135850957
NM_000545.8(HNF1A):c.1623+1G>T
NM_000545.8(HNF1A):c.164_168del (p.Gly55fs) rs2135819834
NM_000545.8(HNF1A):c.1719del (p.Ser574fs) rs2135851518
NM_000545.8(HNF1A):c.1726C>T (p.Gln576Ter)
NM_000545.8(HNF1A):c.1768+1G>A rs1877324101
NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn) rs2135819354
NM_000545.8(HNF1A):c.185del (p.Asn62fs) rs2135819895
NM_000545.8(HNF1A):c.196dup (p.Glu66fs) rs2135819929
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) rs1566092307
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.1A>T (p.Met1Leu) rs193922592
NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter) rs2135819387
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.319C>G (p.Leu107Val)
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg) rs2135820413
NM_000545.8(HNF1A):c.326+1G>A rs2135820424
NM_000545.8(HNF1A):c.326+1G>C rs2135820424
NM_000545.8(HNF1A):c.326+1G>T rs2135820424
NM_000545.8(HNF1A):c.327-1G>A
NM_000545.8(HNF1A):c.327-1G>T rs2135832426
NM_000545.8(HNF1A):c.327_336del10
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.338G>A (p.Trp113Ter) rs2135832456
NM_000545.8(HNF1A):c.339G>A (p.Trp113Ter)
NM_000545.8(HNF1A):c.347C>T (p.Ala116Val)
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter) rs1565883507
NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter)
NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter) rs1876669962
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) rs137853244
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.394G>A (p.Glu132Lys)
NM_000545.8(HNF1A):c.404del (p.Asp135fs) rs2135832632
NM_000545.8(HNF1A):c.425C>T (p.Ser142Phe) rs2135832668
NM_000545.8(HNF1A):c.427C>T (p.His143Tyr) rs2135832685
NM_000545.8(HNF1A):c.42_51delinsTG (p.Ala15fs) rs2135819438
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe) rs1555211426
NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter) rs2135832792
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) rs1172328722
NM_000545.8(HNF1A):c.478del (p.Ala160fs)
NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter) rs1555211436
NM_000545.8(HNF1A):c.4del (p.Val2fs) rs1555260207
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) rs1057520291
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.523C>T (p.Gln175Ter)
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.526+1G>C rs1364708195
NM_000545.8(HNF1A):c.526+1G>T
NM_000545.8(HNF1A):c.526+2del
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.544C>T (p.Gln182Ter)
NM_000545.8(HNF1A):c.587_590del (p.Thr196fs) rs2135839114
NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg) rs1249563793
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.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.646C>T (p.Gln216Ter)
NM_000545.8(HNF1A):c.653A>G (p.Tyr218Cys)
NM_000545.8(HNF1A):c.671C>A (p.Pro224His)
NM_000545.8(HNF1A):c.675del (p.Ser225fs)
NM_000545.8(HNF1A):c.682dup (p.Glu228fs)
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.686G>C (p.Arg229Pro) rs1057520779
NM_000545.8(HNF1A):c.68_69del (p.Lys23fs)
NM_000545.8(HNF1A):c.690_691del (p.Glu230fs)
NM_000545.8(HNF1A):c.694dup (p.Leu232fs) rs1057524908
NM_000545.8(HNF1A):c.697G>C (p.Val233Leu)
NM_000545.8(HNF1A):c.714-1G>A rs1463923467
NM_000545.8(HNF1A):c.71_72del (p.Glu24fs) rs2135819527
NM_000545.8(HNF1A):c.736G>T (p.Val246Leu) rs2135841224
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) rs1308016430
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.781G>A (p.Glu261Lys) rs2135841592
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys) rs771108132
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.788G>T (p.Arg263Leu) rs1057520504
NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly) rs886039386
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.814C>A (p.Arg272Ser) rs1555212014
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.827C>A (p.Ala276Asp) rs137853245
NM_000545.8(HNF1A):c.830del (p.Phe277fs)
NM_000545.8(HNF1A):c.838A>T (p.Lys280Ter)
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs) rs766191969
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.872del (p.Pro291fs) rs587776825
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.876del (p.Pro293fs) rs2135842335
NM_000545.8(HNF1A):c.94G>T (p.Glu32Ter) rs1388926124
NM_000545.8(HNF1A):c.956-1G>A rs1565886545
NM_000545.8(HNF1A):c.956-1G>C rs1565886545
NM_000545.8(HNF1A):c.956-1G>T rs1565886545
NM_000545.8(HNF1A):c.956-2A>G
NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)

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