ClinVar Miner

List of variants reported as benign for Monogenic diabetes by Personalized Diabetes Medicine Program, University of Maryland School of Medicine

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ClinVar version:
Total variants: 120
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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_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_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_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_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
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_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_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
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_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_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
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_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
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_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014 0.00052
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
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.97C>A (p.Pro33Thr) rs192902098
NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln) rs114591600
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426

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