ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 685
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_000046.3(ARSB):c.-564A>G rs59558132 0.16591
NM_000046.3(ARSB):c.-958A>G rs57586329 0.15967
NM_001042351.2(G6PD):c.-111A>G rs111827785 0.14433
NM_000046.3(ARSB):c.-906C>G rs62377914 0.14171
NM_003619.4(PRSS12):c.*1504G>A rs1045817 0.11039
NM_000152.5(GAA):c.*139dup rs865903736 0.10981
NM_000147.4(FUCA1):c.-86T>G rs2070953 0.10497
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001366110.1(PAX4):c.*402T>C rs327519 0.07655
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000046.3(ARSB):c.*3195A>G rs16875887 0.07068
NM_000485.2(APRT):c.-50C>A rs8191469 0.06915
NM_003619.4(PRSS12):c.*807G>A rs17516164 0.06563
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_000925.3(PDHB):c.*407_*408delAA rs35161513 0.06029
NM_000485.3(APRT):c.*3A>G rs2070256 0.05786
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754 0.05209
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_002076.4(GNS):c.*3068_*3069dup rs397946778 0.04705
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001366110.1(PAX4):c.*492G>A rs405576 0.03297
NM_001323543.1(GALNS):c.-523T>C rs116702472 0.03132
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_000152.5(GAA):c.-178G>A rs77514632 0.02487
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_000152.5(GAA):c.-338C>G rs144639114 0.02435
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_017950.4(CCDC40):c.*654A>C rs2289538 0.02366
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02153
NM_000030.2(AGXT):c.-46G>A rs73106672 0.02150
NM_001041.4(SI):c.4841+9A>G rs114438312 0.01984
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473 0.01977
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_006755.1(TALDO1):c.*192G>A rs7933290 0.01926
NM_000485.3(APRT):c.*47T>C rs8191497 0.01906
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993 0.01823
NM_017950.4(CCDC40):c.*265C>T rs74000393 0.01774
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_001041.4(SI):c.483+4C>T rs13086543 0.01717
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000262.3(NAGA):c.*1930G>A rs144373253 0.01599
NM_003619.4(PRSS12):c.*208C>T rs142775631 0.01464
NM_080749.4(NEURL2):c.-112C>T rs117529875 0.01440
NM_000308.3(CTSA):c.-43G>T rs116893852 0.01437
NM_000512.5(GALNS):c.*224C>G rs111233947 0.01437
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_000151.4(G6PC1):c.*745G>T rs116897758 0.01352
NM_152419.3(HGSNAT):c.*817C>T rs78952714 0.01352
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324 0.01219
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_001352514.2(HLCS):c.*1744G>A rs117270429 0.01206
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01125
NM_001366110.1(PAX4):c.*33A>C rs150578361 0.01119
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_005566.4(LDHA):c.*582C>T rs144317385 0.01099
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_002299.4(LCT):c.*429A>C rs77631953 0.01053
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472 0.01050
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_002076.4(GNS):c.*599T>A rs151304792 0.01029
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_001715.2(BLK):c.-448T>C rs148891021 0.00986
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000293.3(PHKB):c.*641C>A rs117861728 0.00962
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_003477.3(PDHX):c.*114A>G rs76663700 0.00931
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) rs34103538 0.00913
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_152419.3(HGSNAT):c.*3213T>A rs141634395 0.00899
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_002076.4(GNS):c.*2751C>T rs137943279 0.00886
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_012203.2(GRHPR):c.493+9C>T rs41303225 0.00873
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_080749.4(NEURL2):c.-163T>G rs184484066 0.00832
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_001352514.2(HLCS):c.*2624G>A rs73210780 0.00769
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000343.4(SLC5A1):c.*1203A>G rs149444431 0.00762
NM_000158.4(GBE1):c.*308C>T rs141214861 0.00757
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837 0.00726
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_003619.4(PRSS12):c.1773C>T (p.His591=) rs34131974 0.00712
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000528.4(MAN2B1):c.*42G>A rs149101136 0.00673
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_001715.2(BLK):c.-530G>A rs115316286 0.00661
NM_000404.4(GLB1):c.*376C>G rs147437116 0.00659
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_000485.3(APRT):c.*182A>G rs8191498 0.00599
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000155.4(GALT):c.*148T>C rs115985083 0.00597
NM_012434.5(SLC17A5):c.*560G>A rs115453489 0.00594
NM_152419.3(HGSNAT):c.*2258A>G rs78930544 0.00584
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182 0.00560
NM_000155.4(GALT):c.*147A>G rs73501024 0.00548
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_001352514.2(HLCS):c.331-7157C>T rs149104163 0.00524
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_000404.4(GLB1):c.*184G>A rs143430374 0.00483
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_152419.3(HGSNAT):c.*2767C>T rs74762381 0.00479
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_001008216.2(GALE):c.-77+241C>G rs566996145 0.00470
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_002103.5(GYS1):c.*256G>A rs148077948 0.00465
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00455
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_003619.4(PRSS12):c.51A>G (p.Glu17=) rs144853134 0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_002500.5(NEUROD1):c.-60G>A rs189844846 0.00441
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_000308.4(CTSA):c.*51C>G rs375835315 0.00438
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_002500.5(NEUROD1):c.*719G>A rs184299700 0.00423
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_000293.3(PHKB):c.*915G>A rs151262633 0.00411
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_001715.2(BLK):c.-441C>A rs142686759 0.00409
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_001366110.1(PAX4):c.*287C>T rs12669223 0.00402
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_001352514.2(HLCS):c.*1725A>G rs73398120 0.00399
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001352514.2(HLCS):c.*3247A>G rs114061673 0.00386
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_000154.2(GALK1):c.*32C>T rs116845474 0.00367
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
NM_000293.3(PHKB):c.*989A>T rs530003571 0.00366
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_198586.3(NHLRC1):c.*320G>A rs79197160 0.00352
NM_000512.5(GALNS):c.-32C>T rs556283159 0.00350
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00337
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000151.4(G6PC1):c.*2975A>T rs145828729 0.00335
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_012434.5(SLC17A5):c.*588G>A rs533473425 0.00317
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_002500.5(NEUROD1):c.*78C>T rs41270211 0.00315
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_152419.3(HGSNAT):c.*2740C>T rs114940430 0.00314
NM_001715.2(BLK):c.-304C>G rs151046937 0.00312
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_000154.2(GALK1):c.1107+5G>A rs201663491 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_198586.3(NHLRC1):c.*875T>C rs72839174 0.00296
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_002591.4(PCK1):c.864C>T (p.Cys288=) rs61760966 0.00283
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_002299.4(LCT):c.1617C>T (p.Thr539=) rs35476200 0.00281
NM_002591.4(PCK1):c.179T>C (p.Met60Thr) rs28383586 0.00278
NM_006488.3(KHK):c.*27A>G rs189674797 0.00278
NM_000343.4(SLC5A1):c.*1476A>G rs190638859 0.00277
NM_006721.4(ADK):c.*740C>T rs150465356 0.00276
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_001352514.2(HLCS):c.*19C>T rs137949852 0.00259
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_006721.4(ADK):c.66-24106T>C rs192064997 0.00255
NM_001164277.2(SLC37A4):c.-42G>C rs186567090 0.00253
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_144563.3(RPIA):c.*241A>G rs151226092 0.00250
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00243
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_022895.3(C12orf43):c.*2053C>T rs140584786 0.00236
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_000293.3(PHKB):c.*590A>G rs143720939 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_006488.3(KHK):c.527G>A (p.Arg176Gln) rs143669793 0.00227
NM_000151.4(G6PC1):c.*2418G>C rs115371692 0.00224
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_003041.4(SLC5A2):c.*33C>G rs199886583 0.00220
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu) rs72903215 0.00212
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_002591.4(PCK1):c.843G>A (p.Ala281=) rs28359546 0.00208
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_006721.4(ADK):c.*375A>G rs185021662 0.00206
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001366110.1(PAX4):c.14-188del rs533462973 0.00204
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049 0.00192
NM_002299.4(LCT):c.4866+12C>T rs191207394 0.00190
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000434.4(NEU1):c.*445T>G rs113824527 0.00175
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_003041.4(SLC5A2):c.*48G>A rs184367787 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
NM_000262.3(NAGA):c.*555C>T rs141688392 0.00168
NM_012434.5(SLC17A5):c.*1492C>G rs148144074 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_017755.6(NSUN2):c.*17G>A rs201903423 0.00160
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_000035.4(ALDOB):c.*152A>G rs192418526 0.00156
NM_002299.4(LCT):c.3597G>A (p.Ala1199=) rs79326512 0.00148
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_000262.3(NAGA):c.*1311T>C rs185586436 0.00142
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_002591.4(PCK1):c.*408T>G rs139159526 0.00121
NM_021957.4(GYS2):c.-219T>G rs184607089 0.00121
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_002299.4(LCT):c.*235C>T rs116002539 0.00111
NM_006488.3(KHK):c.189G>A (p.Met63Ile) rs142663158 0.00108
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_002500.4(NEUROD1):c.*1555C>T rs192155087 0.00099
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_000035.4(ALDOB):c.*752C>G rs555999328 0.00098
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_006488.3(KHK):c.885T>C (p.Asp295=) rs144476131 0.00095
NM_003597.5(KLF11):c.486A>G (p.Pro162=) rs146462049 0.00093
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_153281.2(HYAL1):c.-241C>A rs12631938 0.00087
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910 0.00081
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_198586.3(NHLRC1):c.*720T>C rs141863990 0.00071
NM_000046.5(ARSB):c.*2243A>G rs145585943 0.00069
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_012434.5(SLC17A5):c.*799T>C rs529408804 0.00067
NM_001008216.2(GALE):c.*195T>C rs78587342 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_000352.5(ABCC8):c.*118A>G rs142441893 0.00061
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_001715.3(BLK):c.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00056
NM_006488.3(KHK):c.*623G>A rs192172107 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_012434.5(SLC17A5):c.*1630G>T rs141885984 0.00053
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_000340.2(SLC2A2):c.*486T>C rs566222124 0.00047
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_001041.4(SI):c.4268-14T>C rs201151548 0.00041
NM_003619.4(PRSS12):c.*764A>G rs11098431 0.00041
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_000262.3(NAGA):c.-394A>G rs377708906 0.00039
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000642.3(AGL):c.*1581G>C rs76338815 0.00037
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449 0.00036
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562 0.00035
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=) rs115027760 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) rs115207271 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00026
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000035.4(ALDOB):c.*849T>C rs181650438 0.00024
NM_001352514.2(HLCS):c.*1324T>C rs141644229 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_152419.3(HGSNAT):c.*106G>A rs186881132 0.00024
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_003619.4(PRSS12):c.*1865T>C rs183712097 0.00023
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00023
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479 0.00022
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg) rs142266428 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000925.4(PDHB):c.*201T>C rs375277648 0.00017
NM_003597.5(KLF11):c.*982G>A rs550807244 0.00017
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000343.4(SLC5A1):c.*1237A>G rs368732312 0.00016
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 0.00016
NM_021957.4(GYS2):c.1063-15C>G rs150691568 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_000458.3(HNF1B):c.-232C>T rs142612536 0.00015
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_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467 0.00014
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187 0.00013
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947 0.00013
NM_000891.3(KCNJ2):c.-2C>T rs144760658 0.00013
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_000035.4(ALDOB):c.*567C>T rs540272117 0.00012
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_003597.5(KLF11):c.*2274G>A rs149368043 0.00012
NM_000308.4(CTSA):c.1036G>A (p.Val346Met) rs137941635 0.00011
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974 0.00011
NM_022895.3(C12orf43):c.*2694A>G rs571084139 0.00011
NM_000343.4(SLC5A1):c.*1455C>A rs559383534 0.00010
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=) rs201909993 0.00010
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_000030.3(AGXT):c.942+12C>G rs202001799 0.00009
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_000507.4(FBP1):c.826-9G>C rs200948424 0.00008
NM_003597.5(KLF11):c.1161C>T (p.Asp387=) rs117449189 0.00008
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347 0.00008
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His) rs782528091 0.00007
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000340.2(SLC2A2):c.*1260A>G rs573454591 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His) rs782453258 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile) rs370236540 0.00006
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp) rs200561467 0.00006
NM_015957.4(APIP):c.-30T>C rs567329509 0.00006
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346 0.00006
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_001014436.3(DBNL):c.*2017A>G rs367994618 0.00005
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_001160372.4(TRAPPC9):c.2811-4G>A rs374826041 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_000207.3(INS):c.130G>A (p.Gly44Arg) rs765512575 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000458.4(HNF1B):c.*88A>G rs762266343 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000343.3(SLC5A1):c.-36G>A rs200961861 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000545.8(HNF1A):c.264G>A (p.Glu88=) rs201223431 0.00002
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_002300.8(LDHB):c.472C>T (p.Arg158Cys) rs532712842 0.00002
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=) rs782102345 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_006516.2(SLC2A1):c.-242C>T rs561646847 0.00002
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000284.4(PDHA1):c.*1926G>C rs778062708 0.00001
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000434.3(NEU1):c.-76C>G rs566696697 0.00001
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_001039770.3(TMPPE):c.-523G>C rs529551028 0.00001
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln) rs782702439 0.00001
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=) rs557690622 0.00001
NM_003619.4(PRSS12):c.-10C>T rs559605488 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_006721.4(ADK):c.66-24289G>A rs571962706 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_000030.3(AGXT):c.-24C>G rs192950967
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.4(ARSB):c.-410_-407delCTAA rs151289643
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000152.5(GAA):c.-75C>G rs80020206
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000207.3(INS):c.153A>G (p.Thr51=) rs773789432
NM_000207.3(INS):c.72C>A (p.Ala24=) rs539284976
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000343.4(SLC5A1):c.*423dup rs140860103
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000507.4(FBP1):c.*248del rs11351544
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-9dup rs747324303
NM_001352514.2(HLCS):c.*1589CAAA[2] rs201997019
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_002076.4(GNS):c.*2611dup rs201933913
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002294.3(LAMP2):c.*1701dup rs373005118
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*3031dup rs113549733
NM_002294.3(LAMP2):c.*3459GTT[3] rs199705754
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_002300.8(LDHB):c.130-3_130-2del rs200371155
NM_002591.4(PCK1):c.*349AT[4] rs201179319
NM_002591.4(PCK1):c.*51G>C rs6025630
NM_003051.3(SLC16A1):c.-249C>G rs60953496
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.3(PDHX):c.*904G>T rs182283782
NM_003597.5(KLF11):c.*122C>T rs576978858
NM_003597.5(KLF11):c.*227dup rs34206941
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005566.3(LDHA):c.-152dup rs371317664
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_006488.3(KHK):c.*20AC[2] rs370253620
NM_006755.1(TALDO1):c.-30_-19del rs71464113
NM_015957.4(APIP):c.57+91G>T rs561463212
NM_016203.4(PRKAG2):c.*1021del rs11329945
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323
NM_021957.4(GYS2):c.*437dup rs60154469
NM_022895.3(C12orf43):c.*2372G>A rs55962050
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.86-3del rs151153333
NM_138413.4(HOGA1):c.*415T>A rs148648470
NM_138413.4(HOGA1):c.701-11_701-8dup rs143018385
NM_144563.3(RPIA):c.*599GTT[1] rs371885783
NM_152419.3(HGSNAT):c.*2802C>G rs187372766
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.*2256C>G rs537829031
NM_175914.5(HNF4A):c.*3142del rs141563916
NM_175914.5(HNF4A):c.*657G>A rs3212209
NM_175914.5(HNF4A):c.*76G>T rs11574743
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393

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