ClinVar Miner

List of variants in gene GALT reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 115
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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.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.510C>A (p.Ile170=) rs61735984 0.00290
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.329-24G>A rs114539202 0.00175
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
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.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
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.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000155.4(GALT):c.1059+11A>G rs886042405 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.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.329-19T>C rs886042082 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.386T>C (p.Met129Thr) rs111033683 0.00001
NM_000155.4(GALT):c.387G>A (p.Met129Ile) rs780621729 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.508-12C>G rs727503947 0.00001
NM_000155.4(GALT):c.539G>A (p.Cys180Tyr) rs111033844 0.00001
NM_000155.4(GALT):c.564+7G>A rs760189807 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.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.820+4A>C rs398123186 0.00001
NM_000155.4(GALT):c.875C>T (p.Thr292Met) rs369227288 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1006A>G (p.Met336Val) rs111033810
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile) rs775317639
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1081C>T (p.Leu361Phe) rs886042069
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser) rs749047676
NM_000155.4(GALT):c.277T>A (p.Phe93Ile) rs886042059
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.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.291C>G (p.Asn97Lys) rs398123180
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.328+33G>C rs767197888
NM_000155.4(GALT):c.341A>C (p.His114Pro) rs111033678
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.377+17C>T rs188599777
NM_000155.4(GALT):c.377+7A>C rs376026879
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.406G>T (p.Asp136Tyr) rs794727699
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.445dup (p.Ala149fs) rs786200978
NM_000155.4(GALT):c.449TTG[1] (p.Val151del) rs886043735
NM_000155.4(GALT):c.507+5G>A rs886043775
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.520A>C (p.Lys174Gln) rs1564101431
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.562C>A (p.Gln188Lys) rs398123182
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.565_578del
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) rs398123184
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.605A>C (p.Glu202Ala) rs886042062
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.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.683G>C (p.Arg228Thr) rs373048062
NM_000155.4(GALT):c.71_72insA (p.Phe24fs) rs886042061
NM_000155.4(GALT):c.74G>C (p.Arg25Pro) rs886042099
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
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.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.817G>C (p.Asp273His) rs886042071
NM_000155.4(GALT):c.82+2del rs794726876
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+26G>A rs886042077
NM_000155.4(GALT):c.83-3C>G rs794727235
NM_000155.4(GALT):c.833T>C (p.Ile278Thr) rs111033778
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.864C>A (p.Asn288Lys) rs372134800
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.902A>G (p.His301Arg) rs886042065
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.905-1G>A rs794726971
NM_000155.4(GALT):c.905-2A>G rs398123187
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.985T>C (p.Ser329Pro) rs398123188
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800

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