ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Mendelics

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555 0.89165
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180 0.74398
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala) rs1801262 0.67693
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_000512.5(GALNS):c.120+1532G>C rs34150867 0.38226
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp) rs35836343 0.00427
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_138801.3(GALM):c.424G>A (p.Gly142Arg) rs114440198 0.00194
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887 0.00012
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_022895.3(C12orf43):c.*2096C>T rs571134960 0.00011
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr) rs1332616844 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) rs375063162 0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) rs994896967 0.00001
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_001160372.4(TRAPPC9):c.3279+1G>A rs1489634479 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) rs782317415 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu) rs1557230626 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys) rs767873726 0.00001
NC_000001.10:g.100330092T>A rs794729208
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val) rs764779161
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter) rs2112530498
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile) rs2112211996
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter) rs2151929089
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.2740dup (p.Gln914fs) rs745427943
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.142C>A (p.Arg48Ser) rs886042088
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) rs954171452
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) rs1583592247
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.501G>C (p.Trp167Cys) rs1470521850
NM_000162.5(GCK):c.917T>A (p.Leu306Gln) rs193922337
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.507+1G>A rs2124055167
NM_000202.8(IDS):c.507+2T>G rs2124055161
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) rs781534097
NM_000207.3(INS):c.188-31G>A rs797045623
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_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) rs1599253815
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val) rs2147189334
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter) rs2147934341
NM_000292.3(PHKA2):c.1324+1G>A rs1289077489
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) rs137852290
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.919-1G>A rs2147954328
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter) rs1292721679
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000294.3(PHKG2):c.927+1G>A rs1445993948
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro) rs927157864
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502
NM_000512.5(GALNS):c.1243-2A>C rs2142992422
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) rs1593060859
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_000642.3(AGL):c.1900-13T>A rs533280246
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) rs1570445130
NM_000642.3(AGL):c.2433+2T>C rs2100768436
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) rs370202718
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile) rs1570487362
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) rs1570487381
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325
NM_000642.3(AGL):c.74_75del (p.Leu25fs) rs2101053661
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys) rs1358651584
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr) rs2145731903
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358263.1(HK1):c.1A>G (p.Met1Val) rs1589439508
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu) rs2148328905
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) rs1603411214
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_002294.3(LAMP2):c.436_440dup (p.Leu147fs) rs2147283096
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter) rs2147781328
NM_002637.4(PHKA1):c.919-2A>G rs2147766482
NM_002863.5(PYGL):c.1404-1G>A rs750567664
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter) rs606231310
NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs) rs771187723
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala) rs121909734
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.636+2_636+3insCT rs2126234552
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs) rs2124446490
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs) rs2124446305
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs) rs2124445661
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.4(SLC2A1):c.29del (p.Gly10fs) rs2124461926
NM_006516.4(SLC2A1):c.37dup (p.Met13fs) rs2124461913
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val) rs2124449452
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.4(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.4(SLC2A1):c.635del (p.Arg212fs) rs2124449287
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.727-8del rs112610475
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_014168.4(METTL5):c.591+2T>G rs1400976065
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter) rs1377102705
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del) rs2122282189
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) rs2146127862
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992
NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg) rs2146468685

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