ClinVar Miner

List of variants reported as likely pathogenic 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: 217
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003041.4(SLC5A2):c.1280+1G>A rs554372141 0.00004
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) rs200328403 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 0.00003
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000207.3(INS):c.1A>G (p.Met1Val) rs757124361 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter) rs2056081719
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.759+1_759+8del rs768761898
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001041.4(SI):c.2865C>A (p.Cys955Ter) rs2108202378
NM_001041.4(SI):c.635+2T>C rs1185991890
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.834+2T>C rs947352856
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

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