ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
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HGVS dbSNP
M60091.1:c.761insT?
M60091.1:c.772C>T
M60091.1:c.775C>T?
NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del
NC_000009.12:g.(?_34645559)_(34648914_?)del
NC_000009.12:g.(?_34645559)_(34649574_?)del
NC_000009.12:g.(?_34645559)_(34651238_?)del
NC_000009.12:g.(?_34646586)_(34651238_?)del
NC_000009.12:g.(?_34646609)_(34650459_?)del
NG_009029.1:g.(?_4752)_(?_9014)
NG_009029.1:g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del]
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.1078_1083delGCACTTins20 (p.?)
NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) rs111033762
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg) rs111033809
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) rs111033806
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile) rs111033812
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815
NM_000155.4(GALT):c.1047del (p.Thr350fs) rs111033816
NM_000155.4(GALT):c.1048A>G (p.Thr350Ala) rs111033817
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+56C>T rs111033821
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1072del (p.Arg357_Leu358insTer) rs397515629
NM_000155.4(GALT):c.107C>T (p.Pro36Leu) rs111033645
NM_000155.4(GALT):c.1098C>A (p.Tyr366Ter) rs111033822
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter) rs111033823
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824
NM_000155.4(GALT):c.113A>C (p.Gln38Pro) rs111033646
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.130G>A (p.Val44Met) rs111033647
NM_000155.4(GALT):c.130G>T (p.Val44Leu) rs111033647
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.136_140del (p.Ala46fs) rs111033651
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.152G>T (p.Arg51Leu) rs111033648
NM_000155.4(GALT):c.160C>T (p.Gln54Ter) rs111033649
NM_000155.4(GALT):c.163G>T (p.Gly55Cys) rs111033654
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.197C>A (p.Pro66His) rs111033656
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658
NM_000155.4(GALT):c.1A>G (p.Met1Val) rs111033639
NM_000155.4(GALT):c.207_214del (p.Asp69fs) rs111033655
NM_000155.4(GALT):c.218_219CT[1] (p.Leu74fs) rs111033662
NM_000155.4(GALT):c.220_221insG (p.Leu74fs) rs111033659
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
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.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.252+1G>A rs768154316
NM_000155.4(GALT):c.253-2A>G rs111033661
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.265T>C (p.Tyr89His) rs111033666
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.285T>G (p.Phe95Leu) rs111033668
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.2T>G (p.Met1Arg) rs771702963
NM_000155.4(GALT):c.308A>G (p.Gln103Arg) rs367543252
NM_000155.4(GALT):c.328+2T>C rs111033849
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.334dup (p.Ser112fs) rs111033676
NM_000155.4(GALT):c.336T>C (p.Ser112=) rs367543254
NM_000155.4(GALT):c.337G>A (p.Asp113Asn) rs111033677
NM_000155.4(GALT):c.341A>T (p.His114Leu) rs111033678
NM_000155.4(GALT):c.350T>C (p.Phe117Ser) rs111033679
NM_000155.4(GALT):c.354A>C (p.Gln118His) rs111033673
NM_000155.4(GALT):c.359del (p.Lys120fs)
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675
NM_000155.4(GALT):c.374T>C (p.Val125Ala) rs111033680
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000155.4(GALT):c.377+2dup rs763662108
NM_000155.4(GALT):c.377+53_1059+87del
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.386T>C (p.Met129Thr) rs111033683
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.392T>G (p.Phe131Cys) rs111033684
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.398_399dup (p.Trp134fs) rs367543269
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.410dup (p.Thr138fs) rs397515628
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.416T>C (p.Leu139Pro) rs111033687
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
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.442C>G (p.Arg148Gly) rs111033693
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.448G>C (p.Val150Leu) rs111033699
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.460T>C (p.Trp154Arg) rs111033702
NM_000155.4(GALT):c.460T>G (p.Trp154Gly) rs111033702
NM_000155.4(GALT):c.462G>A (p.Trp154Ter) rs111033704
NM_000155.4(GALT):c.482T>C (p.Leu161Pro) rs111033700
NM_000155.4(GALT):c.490C>T (p.Gln164Ter) rs111033705
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.4(GALT):c.499T>C (p.Trp167Arg) rs111033708
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.505C>A (p.Gln169Lys) rs111033709
NM_000155.4(GALT):c.507+2T>C rs111033710
NM_000155.4(GALT):c.508-5G>C rs111033714
NM_000155.4(GALT):c.509T>A (p.Ile170Asn) rs111033839
NM_000155.4(GALT):c.509T>C (p.Ile170Thr) rs111033839
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.528_529insG (p.Met177fs) rs111033719
NM_000155.4(GALT):c.536G>A (p.Gly179Asp) rs111033720
NM_000155.4(GALT):c.539G>T (p.Cys180Phe) rs111033844
NM_000155.4(GALT):c.541T>G (p.Ser181Ala) rs111033828
NM_000155.4(GALT):c.542C>T (p.Ser181Phe) rs367543259
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.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.553C>T (p.Pro185Ser) rs111033826
NM_000155.4(GALT):c.554C>A (p.Pro185His) rs111033722
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.574A>G (p.Ser192Gly) rs111033830
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734
NM_000155.4(GALT):c.580T>C (p.Phe194Leu) rs111033726
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.4(GALT):c.594T>G (p.Ile198Met) rs111033729
NM_000155.4(GALT):c.595G>A (p.Ala199Thr) rs111033730
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.611G>C (p.Arg204Pro) rs111033740
NM_000155.4(GALT):c.616C>T (p.Gln206Ter) rs1554709366
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.635A>C (p.Gln212Pro) rs111033833
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.658G>A (p.Glu220Lys) rs111033747
NM_000155.4(GALT):c.658dup (p.Glu220fs) rs111033825
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.677T>C (p.Leu226Pro) rs111033752
NM_000155.4(GALT):c.67A>G (p.Thr23Ala) rs111033635
NM_000155.4(GALT):c.680T>C (p.Leu227Pro) rs111033846
NM_000155.4(GALT):c.687+2T>C rs111033748
NM_000155.4(GALT):c.687G>T (p.Lys229Asn) rs111033753
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754
NM_000155.4(GALT):c.697G>C (p.Val233Leu) rs111033843
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
NM_000155.4(GALT):c.745T>C (p.Trp249Arg) rs111033757
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.748C>A (p.Pro250Thr) rs111033759
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.756G>T (p.Gln252His) rs111033769
NM_000155.4(GALT):c.768_770del (p.Pro257del) rs111033770
NM_000155.4(GALT):c.770C>T (p.Pro257Leu) rs111033845
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.777G>A (p.Arg259=) rs111033761
NM_000155.4(GALT):c.785G>C (p.Arg262Pro) rs111033763
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.814C>G (p.Arg272Gly) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.821-2A>G rs111033767
NM_000155.4(GALT):c.821-7A>G rs767337193
NM_000155.4(GALT):c.824del (p.Leu275fs) rs111033777
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.4(GALT):c.82G>C (p.Asp28His) rs111033636
NM_000155.4(GALT):c.82G>T (p.Asp28Tyr) rs111033636
NM_000155.4(GALT):c.833T>A (p.Ile278Asn) rs111033778
NM_000155.4(GALT):c.836T>G (p.Met279Arg) rs111033779
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.854A>G (p.Lys285Arg) rs367543263
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.865C>T (p.Leu289Phe) rs111033774
NM_000155.4(GALT):c.866T>G (p.Leu289Arg) rs111033775
NM_000155.4(GALT):c.871G>A (p.Glu291Lys) rs111033780
NM_000155.4(GALT):c.872A>T (p.Glu291Val) rs111033841
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.882del (p.Tyr296fs) rs111033782
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.900G>A (p.Trp300Ter) rs1034185619
NM_000155.4(GALT):c.904+1G>A
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.904+5G>A rs367543264
NM_000155.4(GALT):c.90G>C (p.Gln30His) rs111033834
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.920C>A (p.Ser307Ter) rs367543265
NM_000155.4(GALT):c.922G>A (p.Glu308Lys) rs111033784
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.948G>A (p.Trp316Ter) rs111033791
NM_000155.4(GALT):c.949del (p.Gln317fs) rs111033785
NM_000155.4(GALT):c.950A>G (p.Gln317Arg) rs111033786
NM_000155.4(GALT):c.951G>T (p.Gln317His) rs111033787
NM_000155.4(GALT):c.952del (p.Leu318fs) rs111033788
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.95T>A (p.Ile32Asn) rs111033644
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.967T>C (p.Tyr323His) rs111033796
NM_000155.4(GALT):c.967T>G (p.Tyr323Asp) rs111033796
NM_000155.4(GALT):c.968A>G (p.Tyr323Cys) rs367543267
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.976del (p.Leu326fs) rs111033799
NM_000155.4(GALT):c.979del (p.Leu327fs) rs111033801
NM_000155.4(GALT):c.980T>C (p.Leu327Pro) rs111033832
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.986C>T (p.Ser329Phe) rs111033803
NM_000155.4(GALT):c.989C>T (p.Ala330Val) rs111033804
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000155.4(GALT):c.998G>T (p.Arg333Leu) rs111033808

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