ClinVar Miner

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

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ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
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_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
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_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His) rs138497710 0.00163
NM_001109809.5(ZFP57):c.1472C>G (p.Thr491Ser) rs184974475 0.00159
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) rs114782902 0.00155
NM_138711.6(PPARG):c.913G>C (p.Val305Leu) rs139894525 0.00135
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_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala) rs138812345 0.00111
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) rs61729285 0.00106
NM_002711.4(PPP1R3A):c.628C>T (p.Arg210Cys) rs141223649 0.00102
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_001042413.2(GLIS3):c.793G>T (p.Val265Phe) rs143192828 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_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
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_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys) rs145867412 0.00062
NM_002303.6(LEPR):c.3247A>G (p.Thr1083Ala) rs149329546 0.00062
NM_005327.7(HADH):c.710-845C>G rs201019894 0.00060
NM_005068.3(SIM1):c.2119G>C (p.Asp707His) rs74726213 0.00058
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_173560.4(RFX6):c.62C>A (p.Ser21Tyr) rs146773792 0.00053
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu) rs142426878 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_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
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_002711.4(PPP1R3A):c.297C>A (p.Phe99Leu) rs115949425 0.00033
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_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_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_002711.4(PPP1R3A):c.2822T>C (p.Met941Thr) rs138771673 0.00021
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_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_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_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.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001807.6(CEL):c.860C>T (p.Thr287Met) rs773990119 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_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_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_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_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_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.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_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.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.728C>G (p.Pro243Arg) rs1444351717
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.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.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_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001366110.1(PAX4):c.128T>C (p.Ile43Thr) rs1057524894
NM_001378454.1(ALMS1):c.12092C>A (p.Pro4031Gln) rs753052003
NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser) rs1349884233
NM_001715.3(BLK):c.712C>T (p.Arg238Trp) rs575123730
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_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.2385G>C (p.Glu795Asp) rs373310972
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.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.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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