ClinVar Miner

List of variants in gene SLC52A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 206
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017986.4(SLC52A1):c.209A>G (p.Gln70Arg) rs346822 0.95470
NM_017986.4(SLC52A1):c.-81A>G rs346824 0.68997
NM_017986.4(SLC52A1):c.812C>T (p.Ala271Val) rs346821 0.66110
NM_017986.4(SLC52A1):c.886G>A (p.Val296Met) rs2304445 0.17701
NM_017986.4(SLC52A1):c.*74T>C rs60480329 0.17560
NM_017986.4(SLC52A1):c.-153G>A rs3744704 0.08680
NM_017986.4(SLC52A1):c.-66G>A rs16954357 0.06857
NM_017986.4(SLC52A1):c.-108+34C>G rs3826508 0.06856
NM_017986.4(SLC52A1):c.-2G>T rs346823 0.03149
NM_017986.4(SLC52A1):c.-127C>T rs115139482 0.02673
NM_017986.4(SLC52A1):c.929G>A (p.Arg310His) rs9897165 0.00678
NM_017986.4(SLC52A1):c.371C>T (p.Ala124Val) rs146289149 0.00426
NM_017986.4(SLC52A1):c.1134+11G>A rs141935493 0.00204
NM_017986.4(SLC52A1):c.167C>T (p.Ala56Val) rs138410039 0.00131
NM_017986.4(SLC52A1):c.510C>T (p.Leu170=) rs144716094 0.00120
NM_017986.4(SLC52A1):c.1321G>C (p.Asp441His) rs148979394 0.00063
NM_017986.4(SLC52A1):c.1229C>A (p.Ala410Glu) rs112874988 0.00048
NM_017986.4(SLC52A1):c.923A>G (p.Tyr308Cys) rs141719111 0.00046
NM_017986.4(SLC52A1):c.815A>T (p.His272Leu) rs137917213 0.00035
NM_017986.4(SLC52A1):c.1010+20C>G rs201127532 0.00026
NM_017986.4(SLC52A1):c.530C>T (p.Thr177Ile) rs548366865 0.00021
NM_017986.4(SLC52A1):c.279C>T (p.Ala93=) rs187721459 0.00020
NM_017986.4(SLC52A1):c.1000G>A (p.Val334Met) rs150164483 0.00016
NM_017986.4(SLC52A1):c.1217C>T (p.Pro406Leu) rs373765126 0.00015
NM_017986.4(SLC52A1):c.770C>T (p.Pro257Leu) rs199704379 0.00015
NM_017986.4(SLC52A1):c.628G>A (p.Ala210Thr) rs139373407 0.00014
NM_017986.4(SLC52A1):c.219G>A (p.Pro73=) rs201983129 0.00011
NM_017986.4(SLC52A1):c.1156C>G (p.Leu386Val) rs187609896 0.00009
NM_017986.4(SLC52A1):c.502G>A (p.Gly168Ser) rs922011403 0.00009
NM_017986.4(SLC52A1):c.709T>C (p.Ser237Pro) rs150901297 0.00009
NM_017986.4(SLC52A1):c.250G>A (p.Val84Ile) rs773631155 0.00008
NM_017986.4(SLC52A1):c.1142C>T (p.Ser381Leu) rs201578619 0.00007
NM_017986.4(SLC52A1):c.1240G>A (p.Ala414Thr) rs142353672 0.00007
NM_017986.4(SLC52A1):c.499G>A (p.Val167Met) rs748747430 0.00007
NM_017986.4(SLC52A1):c.505C>T (p.Arg169Cys) rs201198708 0.00007
NM_017986.4(SLC52A1):c.218C>T (p.Pro73Leu) rs137937212 0.00006
NM_017986.4(SLC52A1):c.565G>C (p.Glu189Gln) rs772552197 0.00006
NM_017986.4(SLC52A1):c.634C>T (p.Arg212Trp) rs370188723 0.00006
NM_017986.4(SLC52A1):c.635G>A (p.Arg212Gln) rs377338075 0.00006
NM_017986.4(SLC52A1):c.874G>A (p.Val292Met) rs767702906 0.00006
NM_017986.4(SLC52A1):c.627C>T (p.Ala209=) rs752972611 0.00005
NM_017986.4(SLC52A1):c.755C>T (p.Pro252Leu) rs148611457 0.00005
NM_017986.4(SLC52A1):c.1248A>G (p.Gln416=) rs761023464 0.00004
NM_017986.4(SLC52A1):c.1314C>G (p.Ser438Arg) rs778902357 0.00004
NM_017986.4(SLC52A1):c.434G>A (p.Arg145Gln) rs374174324 0.00004
NM_017986.4(SLC52A1):c.525G>A (p.Ala175=) rs561867564 0.00004
NM_017986.4(SLC52A1):c.1173T>C (p.Tyr391=) rs892329230 0.00003
NM_017986.4(SLC52A1):c.1273G>A (p.Ala425Thr) rs747887020 0.00003
NM_017986.4(SLC52A1):c.168G>A (p.Ala56=) rs566207091 0.00003
NM_017986.4(SLC52A1):c.1023G>A (p.Gly341=) rs375892458 0.00001
NM_017986.4(SLC52A1):c.1143G>A (p.Ser381=) rs765312194 0.00001
NM_017986.4(SLC52A1):c.1278G>T (p.Met426Ile) rs1265990534 0.00001
NM_017986.4(SLC52A1):c.240C>T (p.Pro80=) rs775262570 0.00001
NM_017986.4(SLC52A1):c.287C>T (p.Ala96Val) rs745318099 0.00001
NM_017986.4(SLC52A1):c.303C>T (p.His101=) rs371340617 0.00001
NM_017986.4(SLC52A1):c.304G>A (p.Val102Met) rs755844433 0.00001
NM_017986.4(SLC52A1):c.330C>T (p.His110=) rs776685575 0.00001
NM_017986.4(SLC52A1):c.524C>T (p.Ala175Val) rs757695687 0.00001
NM_017986.4(SLC52A1):c.569G>A (p.Arg190His) rs545814197 0.00001
NM_017986.4(SLC52A1):c.581G>A (p.Ser194Asn) rs200459465 0.00001
NM_017986.4(SLC52A1):c.661C>T (p.Leu221=) rs1597876062 0.00001
NM_017986.4(SLC52A1):c.702A>T (p.Gln234His) rs751989574 0.00001
NM_017986.4(SLC52A1):c.717A>G (p.Gly239=) rs142480426 0.00001
NM_017986.4(SLC52A1):c.928C>T (p.Arg310Cys) rs778417188 0.00001
NM_017986.4(SLC52A1):c.936C>T (p.Ala312=) rs767093536 0.00001
NM_017986.4(SLC52A1):c.950T>C (p.Val317Ala) rs1004440864 0.00001
NM_017986.4(SLC52A1):c.100C>T (p.Leu34=)
NM_017986.4(SLC52A1):c.1010+10_1010+19del rs553728943
NM_017986.4(SLC52A1):c.1031G>A (p.Gly344Asp)
NM_017986.4(SLC52A1):c.1062del (p.Tyr355fs) rs537206157
NM_017986.4(SLC52A1):c.1081A>G (p.Ile361Val)
NM_017986.4(SLC52A1):c.1095C>A (p.Cys365Ter) rs1204849464
NM_017986.4(SLC52A1):c.1103del (p.Leu368fs)
NM_017986.4(SLC52A1):c.1122G>A (p.Gly374=)
NM_017986.4(SLC52A1):c.1134+11G>C
NM_017986.4(SLC52A1):c.1134+6C>T
NM_017986.4(SLC52A1):c.1134+9G>A rs2143426365
NM_017986.4(SLC52A1):c.1135-10T>A
NM_017986.4(SLC52A1):c.1139T>C (p.Leu380Pro)
NM_017986.4(SLC52A1):c.1142C>G (p.Ser381Trp)
NM_017986.4(SLC52A1):c.1169C>T (p.Ser390Leu)
NM_017986.4(SLC52A1):c.1176G>A (p.Val392=)
NM_017986.4(SLC52A1):c.1178A>G (p.Lys393Arg)
NM_017986.4(SLC52A1):c.1181_1182insA (p.Ala395fs) rs2143425548
NM_017986.4(SLC52A1):c.1187C>A (p.Ala396Glu) rs2143425497
NM_017986.4(SLC52A1):c.1188A>C (p.Ala396=)
NM_017986.4(SLC52A1):c.1210G>A (p.Gly404Ser)
NM_017986.4(SLC52A1):c.1226T>C (p.Leu409Pro)
NM_017986.4(SLC52A1):c.123T>C (p.Leu41=)
NM_017986.4(SLC52A1):c.125C>T (p.Pro42Leu)
NM_017986.4(SLC52A1):c.1263T>A (p.Leu421=) rs72822610
NM_017986.4(SLC52A1):c.1263T>C (p.Leu421=) rs72822610
NM_017986.4(SLC52A1):c.1270G>A (p.Gly424Ser)
NM_017986.4(SLC52A1):c.1289C>G (p.Thr430Ser)
NM_017986.4(SLC52A1):c.130+13_130+16del rs563482586
NM_017986.4(SLC52A1):c.130+15G>A
NM_017986.4(SLC52A1):c.131-18A>G
NM_017986.4(SLC52A1):c.1315A>G (p.Arg439Gly)
NM_017986.4(SLC52A1):c.1317A>G (p.Arg439=)
NM_017986.4(SLC52A1):c.1329A>G (p.Val443=)
NM_017986.4(SLC52A1):c.1337G>A (p.Cys446Tyr) rs200539588
NM_017986.4(SLC52A1):c.1340G>A (p.Gly447Asp) rs768096941
NM_017986.4(SLC52A1):c.141C>T (p.Leu47=)
NM_017986.4(SLC52A1):c.144C>T (p.Pro48=)
NM_017986.4(SLC52A1):c.14C>T (p.Thr5Met)
NM_017986.4(SLC52A1):c.155C>T (p.Ser52Phe)
NM_017986.4(SLC52A1):c.158_171del (p.Val53fs)
NM_017986.4(SLC52A1):c.15G>A (p.Thr5=)
NM_017986.4(SLC52A1):c.15G>T (p.Thr5=)
NM_017986.4(SLC52A1):c.163G>T (p.Val55Leu)
NM_017986.4(SLC52A1):c.168G>T (p.Ala56=) rs566207091
NM_017986.4(SLC52A1):c.175A>C (p.Asn59His)
NM_017986.4(SLC52A1):c.178C>T (p.Leu60=)
NM_017986.4(SLC52A1):c.189G>A (p.Leu63=)
NM_017986.4(SLC52A1):c.189G>C (p.Leu63=)
NM_017986.4(SLC52A1):c.208_209inv (p.Gln70Trp)
NM_017986.4(SLC52A1):c.215C>A (p.Ala72Asp)
NM_017986.4(SLC52A1):c.221dup (p.Lys75fs) rs1975404144
NM_017986.4(SLC52A1):c.227G>A (p.Gly76Asp)
NM_017986.4(SLC52A1):c.228C>G (p.Gly76=)
NM_017986.4(SLC52A1):c.229G>A (p.Glu77Lys)
NM_017986.4(SLC52A1):c.258G>T (p.Val86=) rs2143434376
NM_017986.4(SLC52A1):c.271G>A (p.Gly91Ser)
NM_017986.4(SLC52A1):c.275C>G (p.Thr92Arg)
NM_017986.4(SLC52A1):c.283C>A (p.Leu95Met)
NM_017986.4(SLC52A1):c.290C>T (p.Pro97Leu)
NM_017986.4(SLC52A1):c.298C>T (p.His100Tyr)
NM_017986.4(SLC52A1):c.308C>T (p.Ala103Val) rs2143433666
NM_017986.4(SLC52A1):c.318A>G (p.Ala106=)
NM_017986.4(SLC52A1):c.323A>G (p.Gln108Arg)
NM_017986.4(SLC52A1):c.327C>T (p.Leu109=)
NM_017986.4(SLC52A1):c.360G>T (p.Val120=)
NM_017986.4(SLC52A1):c.370G>A (p.Ala124Thr)
NM_017986.4(SLC52A1):c.376T>C (p.Cys126Arg)
NM_017986.4(SLC52A1):c.381C>T (p.Thr127=)
NM_017986.4(SLC52A1):c.384T>C (p.Ser128=)
NM_017986.4(SLC52A1):c.386A>C (p.Asn129Thr)
NM_017986.4(SLC52A1):c.387T>C (p.Asn129=)
NM_017986.4(SLC52A1):c.3G>A (p.Met1Ile) rs2143437310
NM_017986.4(SLC52A1):c.406C>T (p.Leu136=) rs1401209983
NM_017986.4(SLC52A1):c.408G>A (p.Leu136=)
NM_017986.4(SLC52A1):c.412C>T (p.His138Tyr)
NM_017986.4(SLC52A1):c.414C>T (p.His138=) rs578212063
NM_017986.4(SLC52A1):c.417G>A (p.Leu139=)
NM_017986.4(SLC52A1):c.422C>T (p.Pro141Leu)
NM_017986.4(SLC52A1):c.426T>C (p.Pro142=)
NM_017986.4(SLC52A1):c.432dup (p.Arg145fs) rs1567734976
NM_017986.4(SLC52A1):c.433C>A (p.Arg145=) rs56126318
NM_017986.4(SLC52A1):c.433C>T (p.Arg145Trp)
NM_017986.4(SLC52A1):c.453G>C (p.Gln151His)
NM_017986.4(SLC52A1):c.471C>A (p.Leu157=)
NM_017986.4(SLC52A1):c.490G>C (p.Val164Leu)
NM_017986.4(SLC52A1):c.492G>C (p.Val164=)
NM_017986.4(SLC52A1):c.493C>G (p.Gln165Glu)
NM_017986.4(SLC52A1):c.506G>A (p.Arg169His)
NM_017986.4(SLC52A1):c.507C>T (p.Arg169=)
NM_017986.4(SLC52A1):c.511G>A (p.Glu171Lys)
NM_017986.4(SLC52A1):c.533A>G (p.Asn178Ser)
NM_017986.4(SLC52A1):c.548C>G (p.Pro183Arg)
NM_017986.4(SLC52A1):c.548C>T (p.Pro183Leu) rs767915936
NM_017986.4(SLC52A1):c.555C>T (p.Leu185=)
NM_017986.4(SLC52A1):c.563C>T (p.Pro188Leu)
NM_017986.4(SLC52A1):c.566A>G (p.Glu189Gly) rs1189338503
NM_017986.4(SLC52A1):c.568C>T (p.Arg190Cys)
NM_017986.4(SLC52A1):c.56T>C (p.Phe19Ser)
NM_017986.4(SLC52A1):c.576T>C (p.Pro192=)
NM_017986.4(SLC52A1):c.587del (p.Phe196fs)
NM_017986.4(SLC52A1):c.615C>G (p.Val205=) rs145524474
NM_017986.4(SLC52A1):c.615C>T (p.Val205=) rs145524474
NM_017986.4(SLC52A1):c.61A>G (p.Met21Val) rs2143436753
NM_017986.4(SLC52A1):c.63G>A (p.Met21Ile) rs1341817796
NM_017986.4(SLC52A1):c.64G>T (p.Gly22Cys)
NM_017986.4(SLC52A1):c.657A>T (p.Pro219=)
NM_017986.4(SLC52A1):c.65G>A (p.Gly22Asp)
NM_017986.4(SLC52A1):c.664C>T (p.Pro222Ser)
NM_017986.4(SLC52A1):c.684C>T (p.Gly228=)
NM_017986.4(SLC52A1):c.692C>T (p.Pro231Leu) rs2143430852
NM_017986.4(SLC52A1):c.702A>G (p.Gln234=) rs751989574
NM_017986.4(SLC52A1):c.707G>A (p.Gly236Glu)
NM_017986.4(SLC52A1):c.711C>T (p.Ser237=) rs1597875974
NM_017986.4(SLC52A1):c.733A>G (p.Lys245Glu)
NM_017986.4(SLC52A1):c.733_735del (p.Lys245del)
NM_017986.4(SLC52A1):c.742G>T (p.Glu248Ter)
NM_017986.4(SLC52A1):c.748G>A (p.Ala250Thr)
NM_017986.4(SLC52A1):c.759G>C (p.Leu253Phe)
NM_017986.4(SLC52A1):c.760C>G (p.Gln254Glu)
NM_017986.4(SLC52A1):c.804C>T (p.Asp268=)
NM_017986.4(SLC52A1):c.80_92del (p.Val27fs)
NM_017986.4(SLC52A1):c.844C>T (p.Leu282=)
NM_017986.4(SLC52A1):c.844CTG[3] (p.Leu283_Gly284insLeu)
NM_017986.4(SLC52A1):c.84C>T (p.Asn28=)
NM_017986.4(SLC52A1):c.85G>A (p.Gly29Arg)
NM_017986.4(SLC52A1):c.866C>T (p.Thr289Ile) rs1975375799
NM_017986.4(SLC52A1):c.877A>G (p.Thr293Ala)
NM_017986.4(SLC52A1):c.885C>T (p.Gly295=)
NM_017986.4(SLC52A1):c.887T>C (p.Val296Ala)
NM_017986.4(SLC52A1):c.88A>C (p.Ile30Leu) rs2143436520
NM_017986.4(SLC52A1):c.912C>T (p.Ser304=)
NM_017986.4(SLC52A1):c.914G>C (p.Cys305Ser)
NM_017986.4(SLC52A1):c.921C>G (p.Pro307=) rs1483875358
NM_017986.4(SLC52A1):c.952G>C (p.Val318Leu)
NM_017986.4(SLC52A1):c.967G>A (p.Ala323Thr)
NM_017986.4(SLC52A1):c.972C>T (p.Asn324=)
NM_017986.4(SLC52A1):c.976C>G (p.Leu326Val)
NM_017986.4(SLC52A1):c.987C>G (p.Phe329Leu)
NM_017986.4(SLC52A1):c.991G>C (p.Ala331Pro)

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.