ClinVar Miner

List of variants in gene SLC2A1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
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Total variants: 170
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HGVS dbSNP
NC_000001.11:g.(?_42925375)_(42959176_?)del
NM_006516.2(SLC2A1):c.-225T>G rs886046343
NM_006516.2(SLC2A1):c.-242C>T rs561646847
NM_006516.2(SLC2A1):c.-272G>A rs886046344
NM_006516.2(SLC2A1):c.-368A>C rs528964239
NM_006516.2(SLC2A1):c.-384G>A rs886046345
NM_006516.2(SLC2A1):c.-388G>T rs544483207
NM_006516.2(SLC2A1):c.-390delA rs28365848
NM_006516.2(SLC2A1):c.-424C>G rs867977523
NM_006516.2(SLC2A1):c.-483G>T rs886046346
NM_006516.2(SLC2A1):c.-490G>C rs3754226
NM_006516.2(SLC2A1):c.-510G>C rs886046347
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) rs587784393
NM_006516.3(SLC2A1):c.*1016A>G rs886046334
NM_006516.3(SLC2A1):c.*1081T>A rs886046333
NM_006516.3(SLC2A1):c.*1147G>C rs886046332
NM_006516.3(SLC2A1):c.*1149C>A rs779668330
NM_006516.3(SLC2A1):c.*1205C>T rs886046331
NM_006516.3(SLC2A1):c.*1213G>T rs55728431
NM_006516.3(SLC2A1):c.*1246G>A rs886046330
NM_006516.3(SLC2A1):c.*1281A>G rs1057515458
NM_006516.3(SLC2A1):c.*1337A>C rs113441673
NM_006516.3(SLC2A1):c.*1337A>G rs113441673
NM_006516.3(SLC2A1):c.*1564C>T rs1057515570
NM_006516.3(SLC2A1):c.*1587A>G rs140560514
NM_006516.3(SLC2A1):c.*1588G>A rs189700252
NM_006516.3(SLC2A1):c.*1611T>C rs1057515457
NM_006516.3(SLC2A1):c.*22G>A rs2229683
NM_006516.3(SLC2A1):c.*322T>G rs886046340
NM_006516.3(SLC2A1):c.*346G>A rs190760291
NM_006516.3(SLC2A1):c.*462G>C rs4658
NM_006516.3(SLC2A1):c.*514G>T rs886046339
NM_006516.3(SLC2A1):c.*560T>C rs545613558
NM_006516.3(SLC2A1):c.*571C>T rs6413524
NM_006516.3(SLC2A1):c.*587A>T rs748209315
NM_006516.3(SLC2A1):c.*597G>A rs886046338
NM_006516.3(SLC2A1):c.*60C>T rs2229684
NM_006516.3(SLC2A1):c.*626G>A rs6413525
NM_006516.3(SLC2A1):c.*651G>T rs886046337
NM_006516.3(SLC2A1):c.*750T>A rs886046336
NM_006516.3(SLC2A1):c.*784A>G rs886046335
NM_006516.3(SLC2A1):c.*971G>A rs185891628
NM_006516.3(SLC2A1):c.-190G>C rs114514007
NM_006516.3(SLC2A1):c.-192G>C rs886046342
NM_006516.3(SLC2A1):c.-197A>C rs11537640
NM_006516.3(SLC2A1):c.-26G>C rs375001117
NM_006516.3(SLC2A1):c.1007_1009del (p.Leu336del) rs587784389
NM_006516.3(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.3(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.3(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.3(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.3(SLC2A1):c.1033_1042del (p.Ala345fs) rs1553155973
NM_006516.3(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554
NM_006516.3(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723
NM_006516.3(SLC2A1):c.1062G>A (p.Ala354=) rs748983257
NM_006516.3(SLC2A1):c.1065A>G (p.Leu355=) rs2228490
NM_006516.3(SLC2A1):c.1089del (p.Pro362_Trp363insTer) rs587784391
NM_006516.3(SLC2A1):c.1170C>T (p.Ile390=) rs2236574
NM_006516.3(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.3(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer) rs1570590905
NM_006516.3(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.3(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803
NM_006516.3(SLC2A1):c.1261T>C (p.Cys421Arg) rs1557644984
NM_006516.3(SLC2A1):c.1278+9C>G rs550156548
NM_006516.3(SLC2A1):c.132C>T (p.Tyr44=) rs886046341
NM_006516.3(SLC2A1):c.1347C>A (p.Tyr449Ter) rs80359828
NM_006516.3(SLC2A1):c.1366A>T (p.Lys456Ter) rs80359829
NM_006516.3(SLC2A1):c.1372C>A (p.Arg458=) rs13306758
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.138G>C (p.Gln46His) rs149998596
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.141A>T (p.Thr47=) rs150863093
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.3(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065
NM_006516.3(SLC2A1):c.18+12G>T rs587781171
NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) rs200828053
NM_006516.3(SLC2A1):c.19-2A>G rs796053272
NM_006516.3(SLC2A1):c.192C>G (p.Leu64=) rs762583668
NM_006516.3(SLC2A1):c.272G>A (p.Gly91Asp) rs80359814
NM_006516.3(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_006516.3(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.3(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.3(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.3(SLC2A1):c.299dup (p.Asn100fs) rs1557646673
NM_006516.3(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402
NM_006516.3(SLC2A1):c.313G>A (p.Val105Met) rs577667739
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.3(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.3(SLC2A1):c.399C>T (p.Cys133=) rs11537641
NM_006516.3(SLC2A1):c.411A>G (p.Thr137=) rs753500924
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) rs144538918
NM_006516.3(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.3(SLC2A1):c.45C>T (p.Ala15=) rs1385129
NM_006516.3(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.3(SLC2A1):c.49G>T (p.Gly17Ter) rs1345986424
NM_006516.3(SLC2A1):c.517-1G>C rs869312673
NM_006516.3(SLC2A1):c.543C>T (p.Gly181=) rs377674001
NM_006516.3(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.3(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.3(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.3(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.3(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.3(SLC2A1):c.653G>A (p.Arg218His) rs374080633
NM_006516.3(SLC2A1):c.657C>T (p.Asn219=) rs534113895
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.3(SLC2A1):c.679+4C>A rs139492241
NM_006516.3(SLC2A1):c.679+7G>C rs13306757
NM_006516.3(SLC2A1):c.679+7G>T rs13306757
NM_006516.3(SLC2A1):c.680-10G>T rs587784394
NM_006516.3(SLC2A1):c.732del (p.Met244fs) rs1553156069
NM_006516.3(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.3(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_006516.3(SLC2A1):c.764A>C (p.Lys255Thr) rs5811
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808
NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.3(SLC2A1):c.844_855del (p.Gln282_Ser285del) rs1553156047
NM_006516.3(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.3(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.3(SLC2A1):c.895G>A (p.Glu299Lys) rs148518827
NM_006516.3(SLC2A1):c.906G>T (p.Gly302=) rs55693364
NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.3(SLC2A1):c.966C>T (p.Val322=) rs2229680
NM_006516.3(SLC2A1):c.972+7del rs531385270
NM_006516.3(SLC2A1):c.987G>A (p.Glu329=) rs201989024
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006516.4(SLC2A1):c.*1079T>G
NM_006516.4(SLC2A1):c.*107G>A
NM_006516.4(SLC2A1):c.*1321T>A
NM_006516.4(SLC2A1):c.*216C>T
NM_006516.4(SLC2A1):c.*285C>T
NM_006516.4(SLC2A1):c.*368A>C
NM_006516.4(SLC2A1):c.*413G>A
NM_006516.4(SLC2A1):c.*463T>C
NM_006516.4(SLC2A1):c.*609G>C
NM_006516.4(SLC2A1):c.*775A>G
NM_006516.4(SLC2A1):c.*92G>A
NM_006516.4(SLC2A1):c.-129G>T
NM_006516.4(SLC2A1):c.-194G>A
NM_006516.4(SLC2A1):c.-202G>C
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)
NM_006516.4(SLC2A1):c.275+1del
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
NM_006516.4(SLC2A1):c.293del (p.Met98fs)
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) rs878853161
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
SLC2A1, 12-BP DEL, NT1022
SLC2A1, 3-BP INS, TAT

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