ClinVar Miner

List of variants reported as likely pathogenic for monogenic diabetes by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
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_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) rs193922469 0.00003
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
HNF4A deletion
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) rs193922252
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) rs193922253
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) rs193922255
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.1019+5G>A
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) rs193922259
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) rs193922261
NM_000162.5(GCK):c.109A>G (p.Met37Val)
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) rs193922263
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) rs193922266
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) rs193922267
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) rs193921340
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) rs193921340
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser)
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.1232C>T (p.Ser411Phe)
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) rs193922277
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) rs193922278
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) rs193922279
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) rs1131691416
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) rs193922282
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) rs1057524900
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) rs193922290
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.475A>G (p.Ile159Val) rs1319364468
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.509G>T (p.Gly170Val) rs193922303
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys)
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) rs193922304
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) rs193922305
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.563C>T (p.Ala188Val) rs193922307
NM_000162.5(GCK):c.57C>G (p.Ile19Met) rs193922308
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) rs193922309
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) rs193922312
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.679+1del rs193922320
NM_000162.5(GCK):c.679+2T>C
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) rs193922322
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.749G>A (p.Arg250His) rs370375148
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) rs193922325
NM_000162.5(GCK):c.752T>C (p.Met251Thr) rs193922326
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) rs193922328
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) rs193922330
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) rs193922332
NM_000162.5(GCK):c.820G>A (p.Asp274Asn)
NM_000162.5(GCK):c.820G>T (p.Asp274Tyr)
NM_000162.5(GCK):c.821A>C (p.Asp274Ala)
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.899A>G (p.Glu300Gly)
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) rs193922339
NM_000207.3(INS):c.71C>T (p.Ala24Val) rs80356663
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu) rs193922396
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) rs193922399
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) rs193922406
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met) rs193922407
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro) rs193922565
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.8(HNF1A):c.1310-1G>A rs1877168655
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs) rs2135847490
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs) rs2135819737
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs) rs193922582
NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)
NM_000545.8(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.8(HNF1A):c.518_526+37del rs386134267
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
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.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) rs193922474
NM_175914.5(HNF4A):c.575_582+10del rs193922475
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) rs193922476
Single allele
p.X466Trp

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