ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 393
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HGVS dbSNP gnomAD frequency
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000891.3(KCNJ2):c.-163_-162insTC rs61077847 0.02248
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT rs58144126 0.02246
NM_015028.4(TNIK):c.3012C>T (p.Ser1004=) rs61736291 0.02140
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_053013.3(ENO3):c.-88G>A rs73343373 0.01987
NM_002591.4(PCK1):c.611-16G>A rs75308972 0.01788
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_024824.5(ZC3H14):c.432-3T>C rs77755006 0.01392
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_001041.4(SI):c.692C>G (p.Thr231Ser) rs79468450 0.01059
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_138501.6(TECR):c.16-15G>A rs113855270 0.00612
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_003477.3(PDHX):c.160+15C>G rs187304189 0.00501
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
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_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys) rs35996030 0.00375
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00330
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) rs35776173 0.00300
NM_000292.3(PHKA2):c.2806+13C>A rs186550641 0.00296
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile) rs3213608 0.00266
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_001041.4(SI):c.4275A>G (p.Thr1425=) rs150151075 0.00243
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_004130.4(GYG1):c.609G>A (p.Val203=) rs75445811 0.00188
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_003597.5(KLF11):c.225C>T (p.Val75=) rs144083374 0.00158
NM_001543.5(NDST1):c.927A>G (p.Pro309=) rs137903526 0.00156
NM_001041.4(SI):c.1218C>T (p.Asn406=) rs151296973 0.00152
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000030.3(AGXT):c.573C>T (p.Thr191=) rs146483092 0.00108
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00108
NM_000352.6(ABCC8):c.1924-17C>T rs117189973 0.00105
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_000291.4(PGK1):c.909G>C (p.Val303=) rs142525614 0.00089
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_000291.4(PGK1):c.390G>A (p.Gly130=) rs146350576 0.00085
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00085
NM_012203.2(GRHPR):c.234C>T (p.Ile78=) rs143337459 0.00082
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00079
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00079
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001715.3(BLK):c.1338C>G (p.Arg446=) rs377160616 0.00073
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_001041.4(SI):c.876C>T (p.Phe292=) rs139642816 0.00070
NM_001041.4(SI):c.4541-18T>G rs111418304 0.00064
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg) rs150879765 0.00064
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001041.4(SI):c.3466C>T (p.Leu1156=) rs144285578 0.00056
NM_001041.4(SI):c.484-8C>G rs201820421 0.00056
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) rs150083315 0.00053
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001041.4(SI):c.2343T>C (p.Tyr781=) rs539868642 0.00048
NM_001041.4(SI):c.2721T>C (p.Tyr907=) rs140829463 0.00047
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_001041.4(SI):c.3634-14A>T rs199634091 0.00046
NM_001041.4(SI):c.1278+8T>G rs368886500 0.00045
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_001041.4(SI):c.885T>C (p.Phe295=) rs141754766 0.00044
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00041
NM_003477.3(PDHX):c.242-17C>T rs188930453 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_175914.5(HNF4A):c.921C>T (p.Asp307=) rs151168174 0.00039
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085 0.00036
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00034
NM_001041.4(SI):c.4268-12G>C rs200234624 0.00033
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys) rs145362501 0.00033
NM_138413.4(HOGA1):c.603+19G>A rs370990433 0.00031
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000291.4(PGK1):c.642-20A>C rs201622343 0.00026
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976 0.00026
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=) rs149362007 0.00024
NM_001041.4(SI):c.2301+20T>G rs576773147 0.00024
NM_001366110.1(PAX4):c.762C>T (p.Ile254=) rs147670794 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_012203.2(GRHPR):c.345A>T (p.Ala115=) rs147053190 0.00024
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_001041.4(SI):c.1587G>A (p.Pro529=) rs531422962 0.00021
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 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_001041.4(SI):c.3732C>T (p.Asp1244=) rs200449490 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162 0.00018
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=) rs5408 0.00018
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00017
NM_005566.4(LDHA):c.594G>C (p.Val198=) rs373534867 0.00017
NM_000343.4(SLC5A1):c.208-8G>A rs199783226 0.00016
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys) rs187532711 0.00016
NM_138413.4(HOGA1):c.579G>A (p.Val193=) rs142057128 0.00016
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile) rs189919790 0.00016
NM_001041.4(SI):c.5108+16A>G rs149803140 0.00015
NM_001366110.1(PAX4):c.563-11G>A rs376403180 0.00015
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_001041.4(SI):c.5109-15A>C rs371915462 0.00014
NM_001366110.1(PAX4):c.345G>A (p.Gln115=) rs115157546 0.00014
NM_005566.4(LDHA):c.558T>C (p.His186=) rs570034363 0.00014
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00013
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=) rs147643871 0.00013
NM_000030.3(AGXT):c.596-7T>C rs368799073 0.00012
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_000291.4(PGK1):c.937-8C>T rs367749559 0.00010
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=) rs778961697 0.00010
NM_001041.4(SI):c.4062+18T>C rs367787760 0.00010
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=) rs368134766 0.00009
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_001041.4(SI):c.1686T>C (p.Tyr562=) rs763063946 0.00009
NM_001041.4(SI):c.4000-18A>G rs764830211 0.00009
NM_001366110.1(PAX4):c.498C>T (p.His166=) rs143156250 0.00009
NM_000291.4(PGK1):c.129T>C (p.Ala43=) rs781822299 0.00008
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=) rs368782953 0.00008
NM_000352.6(ABCC8):c.765C>T (p.Ile255=) rs753335564 0.00008
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000340.2(SLC2A2):c.372-16C>T rs372176041 0.00007
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
NM_000458.4(HNF1B):c.1534+10C>T rs368168569 0.00007
NM_001041.4(SI):c.5049A>G (p.Leu1683=) rs199658617 0.00007
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=) rs368678559 0.00007
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00007
NM_005566.4(LDHA):c.127-14T>C rs764597107 0.00007
NM_012203.2(GRHPR):c.180C>T (p.Ser60=) rs139689525 0.00007
NM_000030.3(AGXT):c.1002C>T (p.Asp334=) rs370897272 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_000152.5(GAA):c.1754+17G>A rs769797291 0.00006
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_001041.4(SI):c.5198-7T>C rs200924086 0.00006
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) rs781824710 0.00006
NM_001715.3(BLK):c.675G>A (p.Pro225=) rs761122806 0.00006
NM_001807.6(CEL):c.670-4G>A rs371303105 0.00006
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=) rs778703927 0.00006
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513 0.00005
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=) rs556416269 0.00005
NM_001041.4(SI):c.4000-15T>A rs201336234 0.00005
NM_001041.4(SI):c.4500C>T (p.Asp1500=) rs553547580 0.00005
NM_001041.4(SI):c.807+8A>G rs759240554 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) rs374108537 0.00005
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_031466.8(TRAPPC9):c.-73G>C rs767996463 0.00005
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.804C>T (p.Leu268=) rs377077333 0.00004
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000291.4(PGK1):c.116+8C>T rs369581587 0.00004
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=) rs112488640 0.00004
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00004
NM_000352.6(ABCC8):c.480C>T (p.His160=) rs769858502 0.00004
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_001040716.2(PC):c.561C>T (p.Tyr187=) rs145333590 0.00004
NM_001041.4(SI):c.1887+8A>C rs372410648 0.00004
NM_001041.4(SI):c.2159+11C>T rs761959886 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=) rs751892618 0.00004
NM_175914.5(HNF4A):c.468G>A (p.Ala156=) rs758124162 0.00004
NM_000030.3(AGXT):c.423+12G>A rs574091775 0.00003
NM_000155.4(GALT):c.777G>A (p.Arg259=) rs111033761 0.00003
NM_000340.2(SLC2A2):c.109-19A>G rs182772346 0.00003
NM_000352.6(ABCC8):c.603G>A (p.Pro201=) rs765113879 0.00003
NM_000352.6(ABCC8):c.822+7G>A rs765890511 0.00003
NM_001041.4(SI):c.1995C>T (p.Asp665=) rs757380218 0.00003
NM_001041.4(SI):c.375A>G (p.Gly125=) rs960922254 0.00003
NM_002294.3(LAMP2):c.65-20A>T rs773064698 0.00003
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372 0.00003
NM_175914.5(HNF4A):c.1064-18G>A rs773235761 0.00003
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser) rs781839243 0.00002
NM_000340.2(SLC2A2):c.371+19T>C rs752870085 0.00002
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=) rs371181016 0.00002
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=) rs754554936 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_000642.3(AGL):c.966G>A (p.Arg322=) rs199905460 0.00002
NM_001041.4(SI):c.3888+12G>A rs766861562 0.00002
NM_001041.4(SI):c.969T>C (p.Phe323=) rs780057549 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001715.3(BLK):c.27G>A (p.Pro9=) rs536630306 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.375G>C (p.Pro125=) rs754716643 0.00001
NM_000030.3(AGXT):c.596-10C>T rs890462970 0.00001
NM_000030.3(AGXT):c.660C>T (p.Ile220=) rs780078312 0.00001
NM_000030.3(AGXT):c.981C>T (p.Pro327=) rs760409952 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000151.4(G6PC1):c.108C>T (p.Ile36=) rs148461633 0.00001
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975 0.00001
NM_000151.4(G6PC1):c.822T>C (p.Ala274=) rs761361643 0.00001
NM_000152.5(GAA):c.1551+12C>A rs937342824 0.00001
NM_000152.5(GAA):c.1637-11G>A rs557695694 0.00001
NM_000152.5(GAA):c.2041-13G>A rs1450561353 0.00001
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) rs1555603132 0.00001
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178 0.00001
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=) rs750528703 0.00001
NM_000343.4(SLC5A1):c.886-10T>C rs201709042 0.00001
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=) rs776713811 0.00001
NM_000352.6(ABCC8):c.148+13A>C rs773823246 0.00001
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=) rs750360514 0.00001
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=) rs757507467 0.00001
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=) rs1954592292 0.00001
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=) rs1387302006 0.00001
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=) rs965734923 0.00001
NM_000352.6(ABCC8):c.660C>T (p.Pro220=) rs773643362 0.00001
NM_000352.6(ABCC8):c.894C>A (p.Arg298=) rs375094504 0.00001
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_001041.4(SI):c.186A>G (p.Lys62=) rs368169891 0.00001
NM_001041.4(SI):c.2862G>A (p.Lys954=) rs377552984 0.00001
NM_001041.4(SI):c.3663T>C (p.Tyr1221=) rs767992819 0.00001
NM_001041.4(SI):c.4008A>G (p.Pro1336=) rs747858019 0.00001
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=) rs1043721709 0.00001
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=) rs782326705 0.00001
NM_001715.3(BLK):c.1371C>T (p.Pro457=) rs1356289485 0.00001
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys) rs142784073 0.00001
NM_018297.4(NGLY1):c.801T>C (p.Ser267=) rs199578758 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_000030.3(AGXT):c.27C>G (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.483C>G (p.Gly161=) rs757583201
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1437+15C>T rs2143867420
NM_000152.5(GAA):c.1637-10C>T rs2143881993
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.2043C>A (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2289G>A (p.Val763=) rs767871949
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT rs1555599729
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.373-7del rs778194598
NM_000343.4(SLC5A1):c.584-6G>A rs200525887
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=) rs762412267
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=) rs775699878
NM_000352.6(ABCC8):c.413-5G>C rs186946111
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=) rs1250433233
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.795G>T (p.Arg265=) rs1386314454
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.544+14T>A rs759120365
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.831G>A (p.Gly277=) rs199797518
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_000642.3(AGL):c.2565T>C (p.His855=) rs1312742910
NM_000642.3(AGL):c.3260-14_3260-10dup rs1653309500
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001041.4(SI):c.119-11dup rs533057264
NM_001041.4(SI):c.1506T>G (p.Leu502=) rs113511967
NM_001041.4(SI):c.2361A>C (p.Ile787=) rs116791931
NM_001041.4(SI):c.2737-11del rs11452619
NM_001041.4(SI):c.2737-12_2737-11del rs11452619
NM_001041.4(SI):c.2737-17_2737-11del rs11452619
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.3423+10A>G rs200899300
NM_001041.4(SI):c.3634-5del rs750773954
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.374-11dup rs11313475
NM_001041.4(SI):c.4999G>A (p.Val1667Ile) rs142018224
NM_001041.4(SI):c.5385G>A (p.Ser1795=) rs759867192
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) rs782547500
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu) rs115887120
NM_001715.3(BLK):c.269+13G>C rs144839649
NM_001715.3(BLK):c.591G>T (p.Ser197=) rs140834602
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002500.5(NEUROD1):c.*1A>G
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=) rs2105595687
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045
NM_003051.4(SLC16A1):c.362-58TATT[8] rs149491709
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003597.5(KLF11):c.1050G>A (p.Pro350=) rs145193520
NM_003597.5(KLF11):c.42+18C>G rs1476684022
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_012203.2(GRHPR):c.390C>T (p.Ile130=) rs752869610
NM_012434.5(SLC17A5):c.1112-8A>C rs1581962639
NM_013276.4(SHPK):c.495-19dup rs140922564
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del) rs145749994
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del) rs780903069
NM_024298.5(MBOAT7):c.-1587C>G rs145947907
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup) rs1567672833
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) rs1563366828
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336

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