ClinVar Miner

List of variants reported as pathogenic for galactosemia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_138801.3(GALM):c.424G>A (p.Gly142Arg) rs114440198 0.00194
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
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_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608 0.00009
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
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.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 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.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.904+2T>G rs886063885 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_000154.2(GALK1):c.1059del (p.Thr354fs) rs2061564118 0.00001
NM_000154.2(GALK1):c.611+1G>T rs982043960 0.00001
NM_000154.2(GALK1):c.793+1G>T rs767790909 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824 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.252+1G>A rs768154316 0.00001
NM_000155.4(GALT):c.2T>G (p.Met1Arg) rs771702963 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674 0.00001
NM_000155.4(GALT):c.377+2dup rs763662108 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 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.556C>T (p.His186Tyr) rs111033725 0.00001
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734 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.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.821-7A>G rs767337193 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
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_138801.3(GALM):c.932G>A (p.Trp311Ter) rs767153310 0.00001
NC000009.12:g.(34646588_34655077)del
NC_000001.10:g.(?_24122439)_(24144093_?)del
NC_000001.10:g.(?_24125085)_(24151905_?)del
NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del
NC_000009.11:g.(?_34645662)_(34651235_?)del
NC_000009.11:g.(?_34646573)_(34649581_?)del
NC_000009.11:g.(?_34646573)_(34650446_?)del
NC_000009.11:g.(?_34646579)_(34655067_?)del
NC_000009.11:g.(?_34648999)_(34650430_?)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
NC_000017.10:g.(?_73753076)_(73754632_?)del
NC_000017.10:g.(?_73754127)_(73754690_?)del
NC_000017.10:g.(?_73754127)_(73761239_?)del
NC_000017.10:g.(?_73754137)_(73760187_?)del
NC_000017.10:g.(?_73758775)_(73761239_?)del
NC_000017.10:g.(?_73759968)_(73761239_?)del
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)
NM_000154.2(GALK1):c.1067T>C (p.Leu356Pro)
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs) rs2061563475
NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)
NM_000154.2(GALK1):c.1107+1G>A rs2143585254
NM_000154.2(GALK1):c.162dup (p.Met55fs) rs2143608028
NM_000154.2(GALK1):c.1A>G (p.Met1Val)
NM_000154.2(GALK1):c.1A>T (p.Met1Leu)
NM_000154.2(GALK1):c.202dup (p.Arg68fs)
NM_000154.2(GALK1):c.206dup (p.Asp70fs)
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) rs104894577
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter) rs2143605190
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) rs2061599016
NM_000154.2(GALK1):c.327dup (p.Val110fs)
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter) rs775843885
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter) rs767799179
NM_000154.2(GALK1):c.530del (p.Phe177fs) rs2061594762
NM_000154.2(GALK1):c.609dup (p.Arg204fs)
NM_000154.2(GALK1):c.678del (p.Asn226fs) rs1568395061
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter) rs2143608501
NM_000154.2(GALK1):c.6del (p.Ala3fs) rs2143608720
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.710del (p.Pro237fs) rs773559496
NM_000154.2(GALK1):c.761del (p.Ser254fs) rs1599335144
NM_000154.2(GALK1):c.768_769dup (p.Glu257fs) rs2143601360
NM_000154.2(GALK1):c.781del (p.Glu261fs)
NM_000154.2(GALK1):c.793+2T>C
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.837_841dup (p.Val281fs)
NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.860_881del (p.Arg287fs)
NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)
NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)
NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg) rs111033809
NM_000155.4(GALT):c.1006A>G (p.Met336Val) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) rs111033806
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter) rs111033814
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile) rs775317639
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1054G>C (p.Glu352Gln)
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
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.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.142C>A (p.Arg48Ser) rs886042088
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.166C>T (p.Gln56Ter)
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.1A>C (p.Met1Leu)
NM_000155.4(GALT):c.1A>G (p.Met1Val) rs111033639
NM_000155.4(GALT):c.200del (p.Arg67fs) rs2132341744
NM_000155.4(GALT):c.213dup (p.Asn72fs)
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.252+2T>G
NM_000155.4(GALT):c.260C>G (p.Pro87Arg)
NM_000155.4(GALT):c.262dup (p.Gln88fs)
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
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.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.327del (p.Gly110fs) rs2132342518
NM_000155.4(GALT):c.328+2T>C rs111033849
NM_000155.4(GALT):c.359del (p.Lys120fs) rs1821141007
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.377+1G>A
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000155.4(GALT):c.377+53_1059+87del
NM_000155.4(GALT):c.382G>A (p.Val128Ile)
NM_000155.4(GALT):c.384_388del (p.Met129fs) rs2132343017
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.40_41insT (p.Ala14fs) rs1821111380
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>G (p.Ser143Trp) rs111033697
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.439A>G (p.Ile147Val)
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.462G>A (p.Trp154Ter) rs111033704
NM_000155.4(GALT):c.465_474dup (p.Glu159fs)
NM_000155.4(GALT):c.467C>A (p.Ser156Ter) rs766896883
NM_000155.4(GALT):c.501G>A (p.Trp167Ter)
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.505C>A (p.Gln169Lys) rs111033709
NM_000155.4(GALT):c.507G>C (p.Gln169His)
NM_000155.4(GALT):c.508-2_509del rs2132343638
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.530T>C (p.Met177Thr) rs2132343692
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550del (p.His184fs)
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.558C>G (p.His186Gln) rs886042097
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.576_589del (p.Ser192fs) rs1198705438
NM_000155.4(GALT):c.580T>C (p.Phe194Leu) rs111033726
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.617A>G (p.Gln206Arg) rs1587239309
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.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.649_653dup (p.Met219fs)
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.665G>A (p.Ser222Asn)
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.684del (p.Lys229fs) rs2132344399
NM_000155.4(GALT):c.708_709del (p.Ser236fs) rs2132344913
NM_000155.4(GALT):c.717G>T (p.Trp239Cys)
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
NM_000155.4(GALT):c.71_72insA (p.Phe24fs) rs886042061
NM_000155.4(GALT):c.737G>A (p.Trp246Ter) rs1821176206
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.772del (p.Arg258fs) rs2132345023
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.796G>T (p.Glu266Ter) rs1821178833
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.813G>C (p.Glu271Asp)
NM_000155.4(GALT):c.814del (p.Arg272fs) rs2132345163
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.82+2T>G
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.821-2A>G rs111033767
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.894G>A (p.Met298Ile) rs1821187550
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 rs367543271
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.905-2A>G rs398123187
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.948G>A (p.Trp316Ter) rs111033791
NM_000155.4(GALT):c.949C>T (p.Gln317Ter)
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.98G>A (p.Arg33His) rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.[413C>T;469G>A]
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
NM_001008216.2(GALE):c.152_155del (p.Arg51fs)
NM_001008216.2(GALE):c.196dup (p.Asp66fs)
NM_001008216.2(GALE):c.1A>G (p.Met1Val)
NM_001008216.2(GALE):c.264del (p.Phe88fs)
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu) rs28940882
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.370del (p.Gly123_Val124insTer)
NM_001008216.2(GALE):c.3G>A (p.Met1Ile)
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.517del (p.Gln173fs)
NM_001008216.2(GALE):c.534G>A (p.Trp178Ter)
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.563_564del (p.Pro188fs)
NM_001008216.2(GALE):c.634_635del (p.Val212fs)
NM_001008216.2(GALE):c.655C>T (p.Arg219Ter)
NM_001008216.2(GALE):c.689_690del (p.Asp229_Tyr230insTer)
NM_001008216.2(GALE):c.695_696del (p.Thr232fs)
NM_001008216.2(GALE):c.700del (p.Asp234fs)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.773dup (p.Lys259fs)
NM_001008216.2(GALE):c.815del (p.Gly272fs)
NM_001008216.2(GALE):c.933del (p.Ser312fs)
NM_001008216.2(GALE):c.937C>A (p.Leu313Met) rs3180383
NM_138801.3(GALM):c.244C>T (p.Arg82Ter) rs115413295
NM_138801.3(GALM):c.294del (p.Ile99fs) rs751902026
NM_138801.3(GALM):c.799C>G (p.Arg267Gly) rs1229797646

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