ClinVar Miner

List of variants reported as likely risk allele for Maturity onset diabetes mellitus in young

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln) rs561302824 0.00002
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000458.4(HNF1B):c.1243A>T (p.Thr415Ser) rs765654692 0.00001
NM_000458.4(HNF1B):c.1591G>C (p.Ala531Pro) rs752480540 0.00001
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr) rs772315985 0.00001
NM_000458.4(HNF1B):c.430G>A (p.Gly144Ser) rs374126219 0.00001
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.775G>A (p.Val259Ile) rs778074427 0.00001
NM_175914.5(HNF4A):c.196G>A (p.Val66Met) rs369182343 0.00001
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC rs2096270755
NM_000162.5(GCK):c.1123T>A (p.Ser375Thr) rs1454408814
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) rs1376620210
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) rs193922267
NM_000162.5(GCK):c.1154G>A (p.Gly385Glu) rs2096271537
NM_000162.5(GCK):c.1156C>G (p.Leu386Val) rs1583591700
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_000162.5(GCK):c.1219G>A (p.Gly407Ser) rs2096271295
NM_000162.5(GCK):c.121A>G (p.Met41Val) rs1583604693
NM_000162.5(GCK):c.1229G>T (p.Gly410Val) rs1554334546
NM_000162.5(GCK):c.1280T>G (p.Val427Gly) rs1562712097
NM_000162.5(GCK):c.134T>C (p.Leu45Pro) rs1131691598
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) rs193922290
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.371A>T (p.Asp124Val) rs1554335612
NM_000162.5(GCK):c.377T>C (p.Ile126Thr) rs1562718220
NM_000162.5(GCK):c.427_428delinsCT (p.Lys143Leu) rs1554335598
NM_000162.5(GCK):c.431T>C (p.Leu144Pro) rs1554335596
NM_000162.5(GCK):c.442T>A (p.Phe148Ile) rs1554335582
NM_000162.5(GCK):c.454T>C (p.Phe152Leu) rs2096280050
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
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.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.563C>T (p.Ala188Val) rs193922307
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.734A>G (p.Glu245Gly) rs1583596546
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) rs193922325
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.773G>A (p.Gly258Asp) rs747662793
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.820G>C (p.Asp274His) rs1554335109
NM_000162.5(GCK):c.830T>G (p.Val277Gly) rs1554335093
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) rs2096273902
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.943C>T (p.Leu315Phe) rs1583594350
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) rs193922339
NM_000162.5(GCK):c.98T>G (p.Val33Gly) rs1554335954
NM_000458.4(HNF1B):c.1058G>C (p.Ser353Thr) rs1568645763
NM_000458.4(HNF1B):c.1085C>T (p.Ser362Phe) rs1024639436
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs) rs1598815016
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.1336C>G (p.Gln446Glu) rs1568641291
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.254A>G (p.Asp85Gly) rs984116301
NM_000458.4(HNF1B):c.458A>G (p.His153Arg) rs1598848762
NM_000458.4(HNF1B):c.58G>C (p.Gly20Arg) rs1052557621
NM_000458.4(HNF1B):c.755G>A (p.Arg252Gln) rs529294719
NM_000458.4(HNF1B):c.908G>A (p.Arg303His) rs2033692404
NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly) rs2033692285
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp) rs988279557
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.242T>C (p.Phe81Ser) rs1565880245
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.283G>A (p.Glu95Lys) rs1555210473
NM_000545.8(HNF1A):c.326+4A>G rs193922595
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe) rs1555211426
NM_000545.8(HNF1A):c.43G>A (p.Ala15Thr) rs1265717222
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp) rs1565883574
NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro) rs1555211434
NM_000545.8(HNF1A):c.518_526+37del rs386134267
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.598C>A (p.Arg200=) rs193922598
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg) rs1057524898
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) rs193922600
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly) rs1593058338
NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro) rs1555211982
NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe) rs1555211986
NM_000545.8(HNF1A):c.805G>T (p.Ala269Ser) rs1426548804
NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln) rs1555212016
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro) rs1876087643
NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg) rs1568741527
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.188G>A (p.Arg63Gln) rs1057517745
NM_175914.5(HNF4A):c.201del (p.Lys68fs) rs1385251852
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) rs1555813342
NM_175914.5(HNF4A):c.319G>C (p.Ala107Pro) rs2063517684
NM_175914.5(HNF4A):c.575_582+10del rs193922475
NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro) rs1555816279
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg) rs1568735272
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) rs1236613475

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.