ClinVar Miner

List of variants studied for GLUT1 deficiency syndrome by Genome-Nilou Lab

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 209
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
NM_006516.4(SLC2A1):c.973-17A>G rs111596088 0.01025
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_006516.4(SLC2A1):c.972+17T>A rs202140308 0.00017
NM_006516.4(SLC2A1):c.276-11C>T rs376422395 0.00016
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006516.4(SLC2A1):c.18+14C>T rs970369883 0.00009
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) rs138139624 0.00004
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr) rs749067830 0.00004
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) rs780638574 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=) rs779779804 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=) rs368242382 0.00004
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=) rs755571737 0.00003
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=) rs778522408 0.00003
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln) rs892715050 0.00002
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser) rs796053245 0.00002
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=) rs145962512 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu) rs754791604 0.00002
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro) rs748340730 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006516.4(SLC2A1):c.495C>T (p.Val165=) rs181115612 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=) rs566497194 0.00002
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) rs766376173 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile) rs920394412 0.00002
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met) rs749426767 0.00002
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00001
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723 0.00001
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=) rs755679518 0.00001
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=) rs758184335 0.00001
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=) rs750237005 0.00001
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met) rs764168088 0.00001
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=) rs769414573 0.00001
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) rs200819771 0.00001
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His) rs201748668 0.00001
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn) rs774241047 0.00001
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) rs1159593580 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=) rs766043826 0.00001
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His) rs370031715 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) rs753161833 0.00001
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=) rs760599149 0.00001
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys) rs1333609390 0.00001
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu) rs774348625 0.00001
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala) rs781521534 0.00001
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala) rs987202561 0.00001
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=) rs759617721 0.00001
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr) rs1017082606 0.00001
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017 0.00001
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys) rs1387203768 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.680-16C>T rs752942175 0.00001
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=) rs770293853 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) rs1302959508 0.00001
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu) rs1205631854 0.00001
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) rs775408842 0.00001
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met) rs746091725 0.00001
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=) rs1643460439 0.00001
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr) rs1040371265 0.00001
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) rs755946345
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1075-14G>A rs777450540
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala) rs796053259
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) rs796053260
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.115-2A>G rs2124450950
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser) rs1027810691
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) rs796053263
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu) rs776095655
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys) rs769722007
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) rs1570590876
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile) rs2124446216
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter) rs796053264
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT rs2124446051
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser) rs796053274
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter) rs75485205
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile) rs1216296247
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=) rs1469205406
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp) rs572648977
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr) rs2124445324
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val) rs796053246
NM_006516.4(SLC2A1):c.18+1G>A rs80359841
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met) rs1570601100
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
NM_006516.4(SLC2A1):c.276-1G>A rs1570593665
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=) rs76672402
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu) rs577667739
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=) rs1393465480
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met) rs1057517822
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met) rs760130033
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) rs794727642
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) rs1057520545
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro) rs1570592942
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter) rs2124449417
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala) rs2124449385
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu) rs771352226
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) rs1057521967
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg) rs2124449313
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.634del (p.Arg212fs) rs2124449299
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val) rs2124449273
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=) rs2124449097
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys) rs1165759782
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=) rs1553156067
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp) rs1451575059
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del) rs1557645931
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His) rs758919432
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His) rs1411827478
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter) rs1553156053
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter) rs1553156051
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter) rs1057521066
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=) rs1553156049
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly) rs1425773776
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs) rs886041590
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met) rs780528770
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=) rs780528770
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006516.4(SLC2A1):c.972+20C>G rs781545555
NM_006516.4(SLC2A1):c.972+7C>G rs1553155998
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.