ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) rs34181302 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_002294.3(LAMP2):c.1093+2478A>G rs140936359 0.00014
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu) rs144035603 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225 0.00006
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) rs143071876 0.00004
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400 0.00003
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter) rs1400164869 0.00003
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625 0.00002
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter) rs779620838 0.00001
NM_021957.4(GYS2):c.1331C>A (p.Thr444Asn) rs759192462 0.00001
GRCh37/hg19 6p21.33(chr6:31824828-31834398)
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000158.4(GBE1):c.1644G>C (p.Trp548Cys) rs1703086549
NM_000181.4(GUSB):c.1574T>C (p.Phe525Ser)
NM_000199.5(SGSH):c.1455del (p.Val486fs)
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
NM_000202.8(IDS):c.890G>A (p.Arg297His)
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) rs1356329915
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
NM_000284.4(PDHA1):c.57+2505C>G
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) rs794727843
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000291.4(PGK1):c.418-7T>G
NM_000291.4(PGK1):c.522C>T (p.Ser174=)
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs) rs2133411551
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
NM_000458.4(HNF1B):c.187del (p.His63fs) rs2034117925
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)
NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter) rs2033928772
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.61dup (p.Val21fs) rs2034124973
NM_000458.4(HNF1B):c.628del (p.Ser210fs) rs2147553490
NM_000458.4(HNF1B):c.658G>C (p.Asp220His) rs377555356
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.2681+4dup rs754242194
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
NM_001040616.3(LINS1):c.304del (p.Arg102fs) rs760477654
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.322+2dup
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_002294.3(LAMP2):c.584_585insGC (p.Thr196fs)
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) rs866726564
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
NM_005609.4(PYGM):c.373del (p.Glu125fs) rs2135840482
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val) rs2124449030
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg) rs1277966688
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016219.5(MAN1B1):c.917-2_921del
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) rs762276611
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
NM_021957.4(GYS2):c.522T>G (p.Tyr174Ter)
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
NM_152419.3(HGSNAT):c.1517G>A (p.Arg506Gln)

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