ClinVar Miner

List of variants studied for Maturity onset diabetes mellitus in young by Ambry Genetics

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ClinVar version:
Total variants: 398
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_175914.5(HNF4A):c.319+19C>T rs112386711 0.01208
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000545.8(HNF1A):c.1704C>T (p.Pro568=) rs148520816 0.00103
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598 0.00078
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
NM_000545.8(HNF1A):c.210C>T (p.Ser70=) rs146686581 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_000458.4(HNF1B):c.852C>T (p.His284=) rs149581999 0.00022
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) rs144354798 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 0.00017
NM_000209.4(PDX1):c.210G>T (p.Val70=) rs748725637 0.00016
NM_000209.4(PDX1):c.732C>G (p.Pro244=) rs777512281 0.00016
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00011
NM_000545.8(HNF1A):c.1272T>C (p.Pro424=) rs141324437 0.00011
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) rs936474667 0.00010
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000545.8(HNF1A):c.225C>T (p.Asp75=) rs202180554 0.00009
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000162.5(GCK):c.600G>A (p.Val200=) rs773561406 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000545.8(HNF1A):c.1011C>T (p.Ser337=) rs549471872 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_000545.8(HNF1A):c.954C>T (p.His318=) rs193922607 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.138G>A (p.Arg46=) rs550111033 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=) rs746020457 0.00003
NM_175914.5(HNF4A):c.657C>T (p.Asp219=) rs376586083 0.00003
NM_000545.8(HNF1A):c.978G>A (p.Ala326=) rs200351196 0.00002
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) rs1281712444 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_000458.4(HNF1B):c.66C>A (p.Thr22=) rs906719754 0.00001
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 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.759G>T (p.Gly253=) rs749946974 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=) rs199884828 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) rs1568731613 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.81C>T (p.Asn27=) rs570058788 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)
NM_000162.5(GCK):c.1077del (p.Ser360fs)
NM_000162.5(GCK):c.1086C>T (p.Thr362=)
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
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.1137G>A (p.Ala379=)
NM_000162.5(GCK):c.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) rs1376620210
NM_000162.5(GCK):c.1151C>A (p.Ala384Glu)
NM_000162.5(GCK):c.1155G>A (p.Gly385=)
NM_000162.5(GCK):c.1156del (p.Leu386fs)
NM_000162.5(GCK):c.1161G>C (p.Ala387=)
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1182C>T (p.Arg394=)
NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1233C>G (p.Ser411=) rs755112715
NM_000162.5(GCK):c.1253+1G>C
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
NM_000162.5(GCK):c.1288C>G (p.Leu430Val)
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) rs1185622190
NM_000162.5(GCK):c.132C>T (p.Gly44=)
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
NM_000162.5(GCK):c.1359G>T (p.Ser453=)
NM_000162.5(GCK):c.1389G>A (p.Leu463=)
NM_000162.5(GCK):c.151G>T (p.Glu51Ter)
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.179C>T (p.Thr60Ile) rs747783371
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.264G>A (p.Leu88=)
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.300C>T (p.Ser100=)
NM_000162.5(GCK):c.360G>A (p.Glu120=)
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.445dup (p.Thr149fs)
NM_000162.5(GCK):c.447C>T (p.Thr149=)
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.458C>A (p.Pro153His)
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.478G>C (p.Asp160His)
NM_000162.5(GCK):c.483+1G>A
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) rs2128821624
NM_000162.5(GCK):c.524G>T (p.Gly175Val)
NM_000162.5(GCK):c.525A>G (p.Gly175=)
NM_000162.5(GCK):c.526G>A (p.Ala176Thr)
NM_000162.5(GCK):c.534G>A (p.Gly178=)
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.556C>A (p.Arg186=)
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.568A>T (p.Lys190Ter)
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.579+1G>A
NM_000162.5(GCK):c.580-1G>C
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.656del (p.Gln219fs)
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.675C>G (p.Ile225Met) rs772754004
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.680G>A (p.Gly227Asp) rs2128820681
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.695C>A (p.Ala232Asp)
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
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.750C>G (p.Arg250=)
NM_000162.5(GCK):c.753G>A (p.Met251Ile)
NM_000162.5(GCK):c.756C>T (p.Cys252=)
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.814G>T (p.Glu272Ter)
NM_000162.5(GCK):c.818A>G (p.Tyr273Cys)
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) rs1192394824
NM_000162.5(GCK):c.871A>C (p.Lys291Gln)
NM_000162.5(GCK):c.905del (p.Val302fs)
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.921C>G (p.Leu307=)
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.962_963dup (p.Glu322fs)
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr)
NM_000209.4(PDX1):c.217del (p.Leu73fs)
NM_000209.4(PDX1):c.231C>T (p.Pro77=)
NM_000209.4(PDX1):c.234G>T (p.Ala78=)
NM_000209.4(PDX1):c.258C>T (p.Leu86=)
NM_000209.4(PDX1):c.288C>G (p.Pro96=)
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.339C>T (p.Asn113=)
NM_000209.4(PDX1):c.453G>A (p.Thr151=)
NM_000209.4(PDX1):c.471G>A (p.Gln157=)
NM_000209.4(PDX1):c.528G>T (p.Arg176=)
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)
NM_000209.4(PDX1):c.693C>G (p.Ser231=)
NM_000209.4(PDX1):c.693C>T (p.Ser231=) rs200411304
NM_000209.4(PDX1):c.708G>C (p.Leu236=)
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.816C>T (p.Ser272=)
NM_000209.4(PDX1):c.825G>C (p.Ala275=)
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1008C>G (p.His336Gln)
NM_000458.4(HNF1B):c.1014del (p.Gln338fs)
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile)
NM_000458.4(HNF1B):c.1152C>A (p.Val384=)
NM_000458.4(HNF1B):c.1188C>T (p.Leu396=)
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=) rs776536485
NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly)
NM_000458.4(HNF1B):c.1501A>G (p.Met501Val)
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.165G>A (p.Glu55=)
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.271A>G (p.Ile91Val)
NM_000458.4(HNF1B):c.300C>G (p.Thr100=)
NM_000458.4(HNF1B):c.311C>T (p.Ala104Val)
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.375C>A (p.Ile125=)
NM_000458.4(HNF1B):c.429C>T (p.Thr143=)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.60G>A (p.Gly20=)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)
NM_000458.4(HNF1B):c.907C>T (p.Arg303Cys)
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe)
NM_000458.4(HNF1B):c.999C>T (p.Gly333=)
NM_000458.4(HNF1B):c.9C>G (p.Ser3=)
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)
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.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1275G>A (p.Thr425=)
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1602C>T (p.Ala534=)
NM_000545.8(HNF1A):c.1611G>A (p.Thr537=)
NM_000545.8(HNF1A):c.1623G>C (p.Gln541His)
NM_000545.8(HNF1A):c.1671G>A (p.Thr557=)
NM_000545.8(HNF1A):c.1719C>T (p.Ala573=)
NM_000545.8(HNF1A):c.1728G>A (p.Gln576=)
NM_000545.8(HNF1A):c.1740G>A (p.Pro580=)
NM_000545.8(HNF1A):c.1749G>C (p.Arg583=)
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
NM_000545.8(HNF1A):c.204G>A (p.Arg68=)
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.286G>A (p.Glu96Lys)
NM_000545.8(HNF1A):c.292G>A (p.Ala98Thr)
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.309G>T (p.Val103=) rs1374173552
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.348G>A (p.Ala116=)
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter)
NM_000545.8(HNF1A):c.408C>G (p.Thr136=)
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
NM_000545.8(HNF1A):c.478del (p.Ala160fs)
NM_000545.8(HNF1A):c.479C>T (p.Ala160Val)
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.492C>G (p.Thr164=)
NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.519G>A (p.Val173=) rs534301078
NM_000545.8(HNF1A):c.526+1G>T
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.527-1G>C
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
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.685C>T (p.Arg229Ter) 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.711T>C (p.Asn237=)
NM_000545.8(HNF1A):c.717G>A (p.Ala239=)
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala) rs2135841238
NM_000545.8(HNF1A):c.765C>G (p.Gly255=) rs757910486
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
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.830del (p.Phe277fs)
NM_000545.8(HNF1A):c.837C>T (p.His279=)
NM_000545.8(HNF1A):c.843G>C (p.Leu281=)
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp) rs539507291
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.867C>A (p.Pro289=)
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.918C>T (p.Gly306=)
NM_000545.8(HNF1A):c.955+2T>C
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_175914.5(HNF4A):c.114T>C (p.Cys38=)
NM_175914.5(HNF4A):c.1293C>T (p.Val431=)
NM_175914.5(HNF4A):c.1305C>G (p.Val435=)
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.195C>T (p.Ser65=) rs1008906897
NM_175914.5(HNF4A):c.225-21A>G
NM_175914.5(HNF4A):c.300G>T (p.Arg100=)
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C
NM_175914.5(HNF4A):c.595A>C (p.Arg199=)
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)
NM_175914.5(HNF4A):c.990C>T (p.Ile330=)

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