ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

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ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.688-2A>C rs398123185 0.00002
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824 0.00001
NM_000155.4(GALT):c.142C>T (p.Arg48Cys) rs886042088 0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.499T>C (p.Trp167Arg) rs111033708 0.00001
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725 0.00001
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754 0.00001
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.821-1G>A rs750226076 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808 0.00001
NC_000009.11:g.(?_34649002)_(34650433_?)del
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg) rs111033809
NM_000155.4(GALT):c.101A>G (p.Tyr34Cys)
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser) rs775317639
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) rs1821203474
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+1G>T rs1554709516
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1060-2A>G rs2492880852
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter) rs367543273
NM_000155.4(GALT):c.1098C>G (p.Tyr366Ter) rs111033822
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs) rs2492881242
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.127_130del (p.Leu43fs) rs2492861648
NM_000155.4(GALT):c.132del (p.Ser45fs) rs1554709139
NM_000155.4(GALT):c.133T>C (p.Ser45Pro) rs2132341560
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.14_23dup (p.Gln9fs) rs1554709110
NM_000155.4(GALT):c.151C>T (p.Arg51Trp)
NM_000155.4(GALT):c.152G>T (p.Arg51Leu) rs111033648
NM_000155.4(GALT):c.164del (p.Gly55fs) rs1554709146
NM_000155.4(GALT):c.165_174del (p.Gln56fs) rs2492861889
NM_000155.4(GALT):c.180del (p.Gln60fs) rs1554709148
NM_000155.4(GALT):c.189dup (p.Thr64fs) rs1554709151
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.209del (p.Pro70fs) rs2492862330
NM_000155.4(GALT):c.20del (p.Asp7fs) rs2492858015
NM_000155.4(GALT):c.213dup (p.Asn72fs) rs2492862390
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs) rs2492862494
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.4(GALT):c.252+2T>C rs2492862629
NM_000155.4(GALT):c.253-1G>A rs1587237799
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter) rs145628307
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.28C>T (p.Gln10Ter) rs2492858066
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.328+2T>G rs111033849
NM_000155.4(GALT):c.378-2A>G rs1554709280
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.37C>T (p.Gln13Ter) rs781347467
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.403T>G (p.Ser135Ala) rs2132343082
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.412del (p.Thr138fs) rs2492866246
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.424A>C (p.Met142Leu) rs111033692
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.425T>C (p.Met142Thr) rs111033695
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.450del (p.Val151fs) rs2492866563
NM_000155.4(GALT):c.468_469delinsT (p.Val157fs) rs2492866721
NM_000155.4(GALT):c.501G>C (p.Trp167Cys) rs1407860889
NM_000155.4(GALT):c.502G>A (p.Val168Met) rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-1G>A
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.513dup (p.Glu172Ter) rs886044409
NM_000155.4(GALT):c.514G>T (p.Glu172Ter) rs780156428
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.533T>G (p.Met178Arg) rs2132343699
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550C>G (p.His184Asp) rs111033716
NM_000155.4(GALT):c.550dup (p.His184fs) rs2492868058
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.556del (p.His186fs)
NM_000155.4(GALT):c.557A>G (p.His186Arg) rs2492868160
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.561C>A (p.Cys187Ter) rs1821157539
NM_000155.4(GALT):c.561_564+9del rs1554709342
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+1G>T rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.565_578del
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.586C>G (p.Pro196Ala) rs1821163303
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.604G>A (p.Glu202Lys) rs2132344159
NM_000155.4(GALT):c.608A>G (p.Glu203Gly) rs2132344172
NM_000155.4(GALT):c.611G>C (p.Arg204Pro) rs111033740
NM_000155.4(GALT):c.615_616del (p.Gln206fs) rs2492869513
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp) rs2132344222
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs) rs2492869740
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000155.4(GALT):c.652_653del (p.Leu218fs) rs2492869809
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.668G>A (p.Arg223His) rs553769637
NM_000155.4(GALT):c.669_670del (p.Gln224fs) rs2492869931
NM_000155.4(GALT):c.670C>T (p.Gln224Ter) rs1821166869
NM_000155.4(GALT):c.670del (p.Gln224fs) rs1057516883
NM_000155.4(GALT):c.680_681del (p.Leu227fs) rs2492870014
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.688-1G>C rs1821175162
NM_000155.4(GALT):c.691C>G (p.Arg231Gly) rs111033749
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
NM_000155.4(GALT):c.737G>A (p.Trp246Ter) rs1821176206
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.754del (p.Gln252fs) rs2492872237
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.794del (p.Pro265fs)
NM_000155.4(GALT):c.796G>T (p.Glu266Ter) rs1821178833
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.815G>C (p.Arg272Pro)
NM_000155.4(GALT):c.815G>T (p.Arg272Leu) rs111033831
NM_000155.4(GALT):c.82+2del rs794726876
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+2T>C rs2492872734
NM_000155.4(GALT):c.821-1del rs2132345349
NM_000155.4(GALT):c.823C>G (p.Leu275Val) rs796051967
NM_000155.4(GALT):c.82G>T (p.Asp28Tyr) rs111033636
NM_000155.4(GALT):c.83-2A>G rs1057517415
NM_000155.4(GALT):c.835A>G (p.Met279Val) rs754419297
NM_000155.4(GALT):c.836T>G (p.Met279Arg) rs111033779
NM_000155.4(GALT):c.849_850del (p.Leu283fs) rs2492873310
NM_000155.4(GALT):c.853A>T (p.Lys285Ter) rs1821183505
NM_000155.4(GALT):c.854A>C (p.Lys285Thr) rs367543263
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.86A>G (p.His29Arg) rs2132341442
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.883C>T (p.Pro295Ser) rs111033783
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.892A>G (p.Met298Val) rs1821187430
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000155.4(GALT):c.896G>A (p.Gly299Asp) rs2492873622
NM_000155.4(GALT):c.900G>T (p.Trp300Cys) rs1034185619
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.905-2A>G rs398123187
NM_000155.4(GALT):c.910C>G (p.Pro304Ala) rs2132346162
NM_000155.4(GALT):c.910C>T (p.Pro304Ser) rs2132346162
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs) rs2492875335
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.921dup (p.Glu308fs) rs2492875424
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.957C>G (p.His319Gln) rs111033792
NM_000155.4(GALT):c.968A>G (p.Tyr323Cys) rs367543267
NM_000155.4(GALT):c.971C>T (p.Pro324Leu) rs2492875907
NM_000155.4(GALT):c.979_986del (p.Leu327fs) rs1554709502
NM_000155.4(GALT):c.980T>C (p.Leu327Pro) rs111033832
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800

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