ClinVar Miner

List of variants in gene GALT reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000155.4(GALT):c.377+55T>C rs184214383 0.00197
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000155.4(GALT):c.687+9G>C rs117998880 0.00057
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249 0.00029
NM_000155.4(GALT):c.253-5G>A rs762136953 0.00026
NM_000155.3(GALT):c.-739C>T rs778861821 0.00022
NM_000155.3(GALT):c.-121C>G rs368046870 0.00021
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000155.4(GALT):c.564+15G>A rs111033732 0.00015
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000155.4(GALT):c.688-4C>T rs374014228 0.00014
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000155.4(GALT):c.44C>T (p.Ser15Leu) rs759270191 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) rs1413579895 0.00003
NM_000155.3(GALT):c.-392A>T rs924095458 0.00002
NM_000155.4(GALT):c.268G>C (p.Asp90His) rs201330799 0.00002
NM_000155.4(GALT):c.507+17C>T rs747136664 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.799C>T (p.Leu267=) rs764006034 0.00002
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.1017C>T (p.Tyr339=) rs759417724 0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.328+7T>C rs774350978 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.390C>T (p.Cys130=) rs1410761611 0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.469G>A (p.Val157Ile) rs1173928130 0.00001
NM_000155.4(GALT):c.564+7G>A rs760189807 0.00001
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.632G>C (p.Ser211Thr) rs3824553 0.00001
NM_000155.4(GALT):c.678A>G (p.Leu226=) rs777577533 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.762G>A (p.Leu254=) rs748639317 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.82+13C>T rs776194301 0.00001
NM_000155.4(GALT):c.82+15G>A rs752065555 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.851C>A (p.Thr284Asn) rs753364304 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 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_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.-1004delT rs201344398
NM_000155.3(GALT):c.-1004dupT rs201344398
NM_000155.3(GALT):c.-1005_-1004dupTT rs201344398
NM_000155.3(GALT):c.-631_-630delAG rs149007102
NM_000155.3(GALT):c.-837delT rs549043849
NM_000155.3(GALT):c.-837dupT rs549043849
NM_000155.3(GALT):c.-838_-837dupTT rs549043849
NM_000155.3(GALT):c.-839_-837delTTT rs549043849
NM_000155.3(GALT):c.-839_-837dupTTT rs549043849
NM_000155.3(GALT):c.-840_-837dupTTTT rs549043849
NM_000155.3(GALT):c.-841_-837dupTTTTT rs549043849
NM_000155.3(GALT):c.-842_-837dupTTTTTT rs549043849
NM_000155.3(GALT):c.-843_-837dupTTTTTTT rs549043849
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1022T>C (p.Met341Thr) rs1248681332
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) rs1821203474
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1060-71dup rs56121779
NM_000155.4(GALT):c.1060-79_1060-71dup rs56121779
NM_000155.4(GALT):c.1094A>G (p.His365Arg) rs1821228599
NM_000155.4(GALT):c.275C>A (p.Thr92Asn) rs1554709207
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>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.313G>A (p.Asp105Asn) rs1564100971
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.377+53_1059+87del
NM_000155.4(GALT):c.377+7A>G rs376026879
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.502_504del (p.Val168del) rs1219976432
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
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.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
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.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.688-12_688-11del rs777929860
NM_000155.4(GALT):c.715T>C (p.Trp239Arg) rs1336294207
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del) rs111033762
NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup) rs1554709431
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+18G>A rs1564101965
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.4(GALT):c.833T>C (p.Ile278Thr) rs111033778
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.885C>G (p.Pro295=) rs1554709446
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.902A>G (p.His301Arg) rs886042065
NM_000155.4(GALT):c.904+7C>A rs1564102104
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.[413C>T;469G>A]

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