ClinVar Miner

List of variants studied for Monogenic diabetes by Personalized Diabetes Medicine Program, University of Maryland School of Medicine

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ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03919
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) rs115116507 0.03600
NM_002711.4(PPP1R3A):c.1880G>A (p.Arg627Lys) rs35067467 0.03347
NM_000458.4(HNF1B):c.*47T>G rs8068014 0.02908
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_173560.4(RFX6):c.50C>A (p.Ala17Glu) rs9489056 0.02675
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_002711.4(PPP1R3A):c.2649G>T (p.Arg883Ser) rs1800000 0.02352
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_001109809.5(ZFP57):c.593A>G (p.Asn198Ser) rs9461544 0.02078
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001807.6(CEL):c.353T>G (p.Leu118Arg) rs113056079 0.01720
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu) rs148199056 0.01645
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_173560.4(RFX6):c.1327C>T (p.His443Tyr) rs77146142 0.01320
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_002666.5(PLIN1):c.466G>T (p.Val156Leu) rs111663599 0.01084
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_002303.6(LEPR):c.2096C>T (p.Thr699Met) rs34499590 0.01048
NM_002711.4(PPP1R3A):c.1183T>G (p.Ser395Ala) rs62001864 0.01000
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_001109809.5(ZFP57):c.937A>G (p.Arg313Gly) rs61730327 0.00987
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_002666.5(PLIN1):c.692G>T (p.Arg231Leu) rs114583540 0.00826
NM_002711.4(PPP1R3A):c.1835G>A (p.Gly612Glu) rs76910192 0.00825
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001042413.2(GLIS3):c.1126C>T (p.Pro376Ser) rs76342955 0.00811
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_002711.4(PPP1R3A):c.1714A>G (p.Ile572Val) rs35398707 0.00796
NM_002711.4(PPP1R3A):c.3259A>G (p.Ile1087Val) rs77456357 0.00795
NM_002711.4(PPP1R3A):c.3044A>G (p.Asn1015Ser) rs149701175 0.00793
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
NM_002666.5(PLIN1):c.812C>T (p.Ala271Val) rs58361219 0.00633
NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val) rs146385147 0.00628
NM_002711.4(PPP1R3A):c.133G>A (p.Gly45Ser) rs8192687 0.00595
NM_002666.5(PLIN1):c.1043C>T (p.Ser348Leu) rs8179071 0.00586
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001715.3(BLK):c.335T>C (p.Phe112Ser) rs115068920 0.00517
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_002711.4(PPP1R3A):c.1915G>T (p.Gly639Cys) rs61756423 0.00493
NM_001807.6(CEL):c.1619G>A (p.Arg540His) rs201012268 0.00487
NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp) rs114772002 0.00482
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly) rs144648002 0.00436
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_003597.5(KLF11):c.410A>G (p.Asp137Gly) rs145933214 0.00328
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala) rs80161424 0.00314
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840 0.00243
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met) rs148816140 0.00229
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala) rs138343620 0.00225
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_001109809.5(ZFP57):c.1033G>C (p.Ala345Pro) rs200537697 0.00211
NM_001109809.5(ZFP57):c.475A>T (p.Thr159Ser) rs201703858 0.00211
NM_001109809.5(ZFP57):c.532T>C (p.Tyr178His) rs146835830 0.00210
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_002711.4(PPP1R3A):c.2640A>T (p.Arg880Ser) rs115322623 0.00194
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys) rs142145391 0.00186
NM_001109809.5(ZFP57):c.491G>A (p.Arg164Gln) rs200541066 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_002711.4(PPP1R3A):c.2267C>T (p.Pro756Leu) rs151310594 0.00173
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_001042413.2(GLIS3):c.1090C>T (p.Pro364Ser) rs143056249 0.00165
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His) rs138497710 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_001109809.5(ZFP57):c.1472C>G (p.Thr491Ser) rs184974475 0.00159
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) rs114782902 0.00155
NM_002711.4(PPP1R3A):c.2990T>G (p.Phe997Cys) rs35572169 0.00154
NM_002666.5(PLIN1):c.245C>T (p.Thr82Ile) rs150004289 0.00153
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro) rs146115506 0.00143
NM_138711.6(PPARG):c.913G>C (p.Val305Leu) rs139894525 0.00135
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu) rs57924353 0.00124
NM_000208.4(INSR):c.2575C>T (p.His859Tyr) rs149536206 0.00123
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00122
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala) rs138812345 0.00111
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) rs61729285 0.00106
NM_005068.3(SIM1):c.1864T>C (p.Ser622Pro) rs141415931 0.00105
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_002711.4(PPP1R3A):c.628C>T (p.Arg210Cys) rs141223649 0.00102
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu) rs201522681 0.00093
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_002711.4(PPP1R3A):c.2885G>A (p.Gly962Asp) rs148408134 0.00090
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_001042413.2(GLIS3):c.793G>T (p.Val265Phe) rs143192828 0.00087
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu) rs142248792 0.00085
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg) rs376031632 0.00081
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_002666.5(PLIN1):c.838C>T (p.Arg280Trp) rs146721183 0.00073
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys) rs145867412 0.00062
NM_002303.6(LEPR):c.3247A>G (p.Thr1083Ala) rs149329546 0.00062
NM_002666.5(PLIN1):c.107G>T (p.Cys36Phe) rs140081686 0.00062
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_005327.7(HADH):c.710-845C>G rs201019894 0.00060
NM_005068.3(SIM1):c.2119G>C (p.Asp707His) rs74726213 0.00058
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_002303.6(LEPR):c.658G>A (p.Val220Ile) rs148349369 0.00054
NM_173560.4(RFX6):c.62C>A (p.Ser21Tyr) rs146773792 0.00053
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014 0.00052
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_173560.4(RFX6):c.268G>A (p.Ala90Thr) rs377721888 0.00049
NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu) rs142426878 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) rs202228712 0.00043
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) rs199910987 0.00034
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) rs148239625 0.00034
NM_002711.4(PPP1R3A):c.297C>A (p.Phe99Leu) rs115949425 0.00033
NM_002666.5(PLIN1):c.814G>A (p.Val272Met) rs145476436 0.00032
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe) rs368297251 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_000208.4(INSR):c.224A>G (p.Asp75Gly) rs142910337 0.00029
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) rs142647085 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_002711.4(PPP1R3A):c.3260T>G (p.Ile1087Arg) rs139484221 0.00026
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His) rs375796317 0.00024
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His) rs149840771 0.00023
NM_002303.6(LEPR):c.430G>T (p.Val144Leu) rs147667928 0.00023
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg) rs201293992 0.00023
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_002711.4(PPP1R3A):c.2822T>C (p.Met941Thr) rs138771673 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006412.4(AGPAT2):c.461C>A (p.Ala154Asp) rs150530734 0.00020
NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val) rs200959196 0.00019
NM_002711.4(PPP1R3A):c.2972G>A (p.Arg991Lys) rs374950521 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val) rs140995132 0.00019
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser) rs755318788 0.00016
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_005068.3(SIM1):c.2107C>T (p.Arg703Trp) rs532142781 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_001042413.2(GLIS3):c.275C>T (p.Thr92Ile) rs375931960 0.00015
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln) rs200694226 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00013
NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys) rs181911810 0.00013
NM_001042413.2(GLIS3):c.106G>A (p.Gly36Arg) rs199788224 0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001753.5(CAV1):c.500T>C (p.Phe167Ser) rs201966419 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) rs936474667 0.00010
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_005068.3(SIM1):c.1720A>G (p.Met574Val) rs150382307 0.00010
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741 0.00009
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_001042413.2(GLIS3):c.24G>T (p.Met8Ile) rs201804281 0.00009
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_002711.4(PPP1R3A):c.1040T>C (p.Val347Ala) rs372606055 0.00008
NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile) rs1162744670 0.00008
NM_001807.6(CEL):c.709A>G (p.Ile237Val) rs368907057 0.00007
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001807.6(CEL):c.860C>T (p.Thr287Met) rs773990119 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_005068.3(SIM1):c.1649G>A (p.Arg550His) rs137870558 0.00006
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_001042413.2(GLIS3):c.31C>T (p.His11Tyr) rs773069755 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_002711.4(PPP1R3A):c.2821A>G (p.Met941Val) rs772082412 0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) rs138165486 0.00004
NM_178161.3(PTF1A):c.283G>C (p.Gly95Arg) rs962887931 0.00004
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) rs753881947 0.00003
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001715.3(BLK):c.154C>A (p.Pro52Thr) rs375173243 0.00003
NM_001715.3(BLK):c.67T>C (p.Trp23Arg) rs574731221 0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) rs372794914 0.00003
NM_173560.4(RFX6):c.2412C>G (p.Ser804Arg) rs751261241 0.00003
NM_000340.2(SLC2A2):c.10G>C (p.Asp4His) rs200073044 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_001042413.2(GLIS3):c.2704C>T (p.Arg902Cys) rs1407324725 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_002666.5(PLIN1):c.991C>T (p.Leu331Phe) rs759726625 0.00002
NM_006005.3(WFS1):c.1896G>T (p.Met632Ile) rs1057524890 0.00002
NM_006412.4(AGPAT2):c.455T>C (p.Val152Ala) rs1230993149 0.00002
NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile) rs1231702573 0.00002
NM_138711.6(PPARG):c.1295A>G (p.Lys432Arg) rs756523051 0.00002
NM_170707.4(LMNA):c.1504G>A (p.Ala502Thr) rs1215424724 0.00002
NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln) rs561302824 0.00002
NM_000208.4(INSR):c.2564G>A (p.Gly855Asp) rs201667363 0.00001
NM_000209.4(PDX1):c.208G>A (p.Val70Met) rs1234749777 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000458.4(HNF1B):c.1630A>G (p.Thr544Ala) rs1352906725 0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_001042413.2(GLIS3):c.1973C>G (p.Ala658Gly) rs977500969 0.00001
NM_001042413.2(GLIS3):c.590A>T (p.Asp197Val) rs761151597 0.00001
NM_001122955.4(BSCL2):c.969G>T (p.Trp323Cys) rs1444410995 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly) rs1057524885 0.00001
NM_001378454.1(ALMS1):c.2212G>A (p.Glu738Lys) rs1057524883 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.6037G>T (p.Ala2013Ser) rs1057524884 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_001753.5(CAV1):c.43A>G (p.Thr15Ala) rs760934779 0.00001
NM_002303.6(LEPR):c.1139A>G (p.Gln380Arg) rs751025808 0.00001
NM_002303.6(LEPR):c.1292A>G (p.Asn431Ser) rs937591370 0.00001
NM_004836.7(EIF2AK3):c.833T>A (p.Phe278Tyr) rs756231274 0.00001
NM_005068.3(SIM1):c.1894C>T (p.His632Tyr) rs1486871541 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.826G>A (p.Val276Ile) rs768726421 0.00001
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) rs752432398 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) rs368264587 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2570C>A (p.Thr857Asn) rs573202595 0.00001
NM_006005.3(WFS1):c.578A>G (p.Lys193Arg) rs1005714777 0.00001
NM_006412.4(AGPAT2):c.29C>G (p.Ala10Gly) rs1284278396 0.00001
NM_006996.3(SLC19A2):c.980G>T (p.Arg327Leu) rs756708244 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_175914.5(HNF4A):c.1069C>G (p.Pro357Ala) rs201319115 0.00001
NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser) rs760038979 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.901A>G (p.Ile301Val) rs920346355 0.00001
NM_000162.5(GCK):c.74T>A (p.Leu25Gln) rs193922325
NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe) rs1057524892
NM_000208.4(INSR):c.1459A>C (p.Lys487Gln) rs121913136
NM_000208.4(INSR):c.1741C>T (p.Arg581Trp) rs1555743340
NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs) rs1957772748
NM_000209.4(PDX1):c.455C>T (p.Ala152Val) rs1355562073
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.728C>G (p.Pro243Arg) rs1444351717
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000340.2(SLC2A2):c.971A>G (p.Tyr324Cys) rs1715394753
NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe) rs777461294
NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp) rs1554906389
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.4043A>G (p.Asn1348Ser) rs1554905775
NM_000458.4(HNF1B):c.1180A>G (p.Asn394Asp) rs2032897142
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.262A>G (p.Thr88Ala) rs1555833051
NM_000458.4(HNF1B):c.499G>C (p.Ala167Pro) rs757452269
NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile) rs1437510576
NM_000525.4(KCNJ11):c.902G>C (p.Arg301Pro) rs74339576
NM_000545.8(HNF1A):c.152G>T (p.Gly51Val) rs776710848
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg) rs1057524898
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro) rs1876087643
NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln) rs146131512
NM_001042413.2(GLIS3):c.1464C>G (p.Asp488Glu) rs377094207
NM_001042413.2(GLIS3):c.2765A>T (p.Gln922Leu) rs1057524895
NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala) rs143051164
NM_001042413.2(GLIS3):c.95G>C (p.Arg32Pro) rs375834888
NM_001109809.5(ZFP57):c.288G>C (p.Lys96Asn) rs745602868
NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln) rs114591600
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.631-1G>C rs1057524896
NM_001366110.1(PAX4):c.128T>C (p.Ile43Thr) rs1057524894
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.12092C>A (p.Pro4031Gln) rs753052003
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2973G>T (p.Lys991Asn) rs1444578140
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser) rs1349884233
NM_001378454.1(ALMS1):c.9112C>G (p.Pro3038Ala) rs370622410
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala) rs745518051
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.712C>T (p.Arg238Trp) rs575123730
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_002303.6(LEPR):c.1055G>T (p.Cys352Phe) rs1057524881
NM_002303.6(LEPR):c.1968G>T (p.Lys656Asn) rs1805094
NM_002666.5(PLIN1):c.964-1G>A rs201579932
NM_002711.4(PPP1R3A):c.1824C>A (p.Ser608Arg) rs767098711
NM_002711.4(PPP1R3A):c.2990T>C (p.Phe997Ser) rs35572169
NM_002711.4(PPP1R3A):c.416C>G (p.Ser139Cys) rs1057524893
NM_003597.5(KLF11):c.608_609delinsAG (p.Gly203Glu) rs1057524882
NM_004836.7(EIF2AK3):c.440T>G (p.Val147Gly) rs1057524886
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) rs876657735
NM_006005.3(WFS1):c.1135G>T (p.Asp379Tyr) rs772554352
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1868T>A (p.Met623Lys) rs758746685
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.667C>A (p.Leu223Met) rs1057524889
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_006412.4(AGPAT2):c.274T>C (p.Cys92Arg) rs1554754454
NM_006412.4(AGPAT2):c.646_647= (p.Lys216=)
NM_006996.3(SLC19A2):c.98C>A (p.Pro33Gln) rs867455033
NM_012232.6(CAVIN1):c.1038CGA[3] (p.Asp349del) rs767832643
NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup) rs537998274
NM_012232.6(CAVIN1):c.55G>A (p.Ala19Thr) rs185645510
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) rs781861708
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) rs1057524899
NM_138711.6(PPARG):c.832C>T (p.Arg278Cys) rs1176746892
NM_173560.4(RFX6):c.1319A>G (p.Tyr440Cys) rs1018054636
NM_173560.4(RFX6):c.143C>T (p.Ala48Val) rs200522460
NM_173560.4(RFX6):c.1930C>T (p.Pro644Ser) rs762488509
NM_173560.4(RFX6):c.1955G>A (p.Arg652Gln) rs867520268
NM_173560.4(RFX6):c.878A>C (p.His293Pro) rs1775460105
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) rs1236613475
NM_178161.3(PTF1A):c.343C>T (p.Pro115Ser) rs1840910466
NM_178161.3(PTF1A):c.440C>T (p.Ala147Val) rs1840912525
NM_178161.3(PTF1A):c.520C>T (p.Arg174Trp) rs1840913860

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