ClinVar Miner

List of variants studied for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Invitae

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Total variants: 121
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HGVS dbSNP
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
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
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.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.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1077G>A (p.Arg359=) rs148967210
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
NM_000155.4(GALT):c.1116C>T (p.Asp372=) rs757314660
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr) rs780064274
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
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.200G>A (p.Arg67His) rs758430398
NM_000155.4(GALT):c.253-2A>G rs111033661
NM_000155.4(GALT):c.253-5G>A rs762136953
NM_000155.4(GALT):c.253-6C>T
NM_000155.4(GALT):c.267C>T (p.Tyr89=) rs145628307
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
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.295T>A (p.Phe99Ile)
NM_000155.4(GALT):c.328+33G>A
NM_000155.4(GALT):c.328+7T>C rs774350978
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.32G>A (p.Arg11His) rs757632977
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.378-9A>G rs371470838
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.414G>A (p.Thr138=) rs116479817
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.459A>G (p.Ala153=) rs141498518
NM_000155.4(GALT):c.480G>A (p.Glu160=) rs1587238612
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.502_504del (p.Val168del)
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
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.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
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.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.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.688-1G>C
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
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.700C>T (p.Leu234=) rs751351126
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.773G>A (p.Arg258His)
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.82+8C>T rs368244179
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+4A>C rs398123186
NM_000155.4(GALT):c.821-7A>G rs767337193
NM_000155.4(GALT):c.827C>G (p.Ala276Gly) rs1564102003
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys) rs775789069
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.904+1G>A
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
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.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
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

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