ClinVar Miner

List of variants reported as likely pathogenic for Monogenic diabetes

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ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NG_011731.2:g.4741A>C rs2135818776
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC rs2096270755
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.1019+5G>A
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.109A>G (p.Met37Val)
NM_000162.5(GCK):c.110T>C (p.Met37Thr)
NM_000162.5(GCK):c.1111T>C (p.Cys371Arg)
NM_000162.5(GCK):c.1112G>A (p.Cys371Tyr)
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1120G>A (p.Val374Met) rs1415041911
NM_000162.5(GCK):c.1121T>A (p.Val374Glu)
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.1132G>C (p.Ala378Pro)
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) rs193929374
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs) rs1554334610
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.113A>T (p.Gln38Leu)
NM_000162.5(GCK):c.1142T>A (p.Met381Lys) rs193922266
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) rs193922266
NM_000162.5(GCK):c.1144T>G (p.Cys382Gly)
NM_000162.5(GCK):c.1144del (p.Cys382fs)
NM_000162.5(GCK):c.1147T>A (p.Ser383Thr)
NM_000162.5(GCK):c.1148C>G (p.Ser383Trp)
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser)
NM_000162.5(GCK):c.1175G>C (p.Arg392Pro)
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys)
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1256T>C (p.Phe419Ser)
NM_000162.5(GCK):c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422fs)
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) rs2128818859
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
NM_000162.5(GCK):c.1306A>T (p.Ile436Phe)
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1331dup (p.Ser445fs)
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1346_1347del (p.Ala449fs)
NM_000162.5(GCK):c.1348del (p.Ala450fs)
NM_000162.5(GCK):c.1351del (p.Leu451fs)
NM_000162.5(GCK):c.1358C>A (p.Ser453Ter)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1358_*127delinsT (p.Ser453fs)
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) rs1057524900
NM_000162.5(GCK):c.1363dup (p.Val455fs)
NM_000162.5(GCK):c.1368del (p.Cys457fs)
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.1379_*2del (p.Ala460fs)
NM_000162.5(GCK):c.1391_1392del (p.Gly464fs)
NM_000162.5(GCK):c.1391del (p.Gly464fs)
NM_000162.5(GCK):c.1396T>C (p.Ter466Arg)
NM_000162.5(GCK):c.1398A>G (p.Ter466Trp)
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.349G>C (p.Gly117Arg) rs748554061
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
NM_000162.5(GCK):c.389T>A (p.Ile130Asn)
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
NM_000162.5(GCK):c.437T>G (p.Leu146Arg)
NM_000162.5(GCK):c.461T>G (p.Val154Gly)
NM_000162.5(GCK):c.465G>T (p.Arg155Ser)
NM_000162.5(GCK):c.466C>T (p.His156Tyr) rs1562718043
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys)
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
NM_000162.5(GCK):c.622G>C (p.Ala208Pro)
NM_000162.5(GCK):c.627_628delinsAG (p.Met210Val)
NM_000162.5(GCK):c.628A>G (p.Met210Val)
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.749G>A (p.Arg250His) rs370375148
NM_000162.5(GCK):c.775G>T (p.Ala259Ser)
NM_000162.5(GCK):c.823C>G (p.Arg275Gly)
NM_000162.5(GCK):c.824G>C (p.Arg275Pro)
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) rs2096273902
NM_000162.5(GCK):c.884G>T (p.Gly295Val)
NM_000162.5(GCK):c.898G>A (p.Glu300Lys) rs1255911887
NM_000162.5(GCK):c.898G>C (p.Glu300Gln)
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000207.3(INS):c.278A>G (p.Glu93Gly) rs1057524907
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1501+1G>T rs1131692182
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs) rs193922582
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.1772_1773del (p.Ser591fs) rs2135854397
NM_000545.8(HNF1A):c.1786del (p.Val596fs) rs2135854461
NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn) rs2135819354
NM_000545.8(HNF1A):c.1802del (p.Ser600_Ser601insTer) rs2135854520
NM_000545.8(HNF1A):c.1840_1841del (p.Asn614fs) rs2135854670
NM_000545.8(HNF1A):c.186del (p.Asn62fs) rs2135819908
NM_000545.8(HNF1A):c.1A>C (p.Met1Leu) 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.282dup (p.Glu95Ter) rs2135820267
NM_000545.8(HNF1A):c.28A>C (p.Thr10Pro) rs2135819400
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.342dup (p.Val115fs) rs2135832474
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.427del (p.His143fs) rs2135832675
NM_000545.8(HNF1A):c.429C>G (p.His143Gln) rs2135832689
NM_000545.8(HNF1A):c.475C>G (p.Arg159Gly) rs765432081
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.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.616T>A (p.Trp206Arg) rs1057524898
NM_000545.8(HNF1A):c.619G>T (p.Gly207Cys) rs2135839346
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.685C>G (p.Arg229Gly) rs769086289
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.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.737T>G (p.Val246Gly) rs2135841238
NM_000545.8(HNF1A):c.779C>A (p.Thr260Lys)
NM_000545.8(HNF1A):c.779C>G (p.Thr260Arg)
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.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.82C>T (p.Gln28Ter) rs2135819583
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864dup (p.Pro289fs) rs762703502
NM_000545.8(HNF1A):c.98C>T (p.Pro33Leu) rs1001854457
NM_175914.5(HNF4A):c.125G>T (p.Gly42Val)
NM_175914.5(HNF4A):c.1del (p.Met1fs) rs2146127577
NM_175914.5(HNF4A):c.278G>A (p.Cys93Tyr)
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.304G>A (p.Gly102Ser)
NM_175914.5(HNF4A):c.427-2A>G
NM_175914.5(HNF4A):c.490dup (p.Asp164fs)
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.582+1G>C
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) rs193922476
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.901A>T (p.Ile301Phe)
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.938G>T (p.Gly313Val)

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