ClinVar Miner

List of variants in gene SLC6A1 studied for Inborn genetic diseases

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.780G>A (p.Thr260=) rs33948309 0.02040
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=) rs35513423 0.01020
NM_003042.4(SLC6A1):c.535A>G (p.Met179Val) rs34299874 0.00894
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=) rs35972647 0.00702
NM_003042.4(SLC6A1):c.138G>A (p.Thr46=) rs183069336 0.00475
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949 0.00159
NM_003042.4(SLC6A1):c.1647C>T (p.Pro549=) rs2272401 0.00138
NM_003042.4(SLC6A1):c.411C>T (p.Asn137=) rs148429200 0.00103
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=) rs150519659 0.00058
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=) rs139315755 0.00053
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=) rs6343 0.00032
NM_003042.4(SLC6A1):c.1275T>G (p.Ala425=) rs33999096 0.00029
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=) rs34969656 0.00027
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003042.4(SLC6A1):c.-5G>A rs200451145 0.00024
NM_003042.4(SLC6A1):c.1044C>T (p.Val348=) rs144666962 0.00021
NM_003042.4(SLC6A1):c.480G>T (p.Pro160=) rs116620331 0.00021
NM_003042.4(SLC6A1):c.1041T>C (p.His347=) rs371611997 0.00011
NM_003042.4(SLC6A1):c.1335T>C (p.Tyr445=) rs758040188 0.00007
NM_003042.4(SLC6A1):c.1663A>G (p.Met555Val) rs139846326 0.00007
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_003042.4(SLC6A1):c.891G>A (p.Gly297=) rs151039956 0.00006
NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=) rs201643896 0.00004
NM_003042.4(SLC6A1):c.384G>A (p.Ala128=) rs2272404 0.00004
NM_003042.4(SLC6A1):c.45C>T (p.Thr15=) rs761463345 0.00004
NM_003042.4(SLC6A1):c.492C>T (p.Cys164=) rs151263329 0.00004
NM_003042.4(SLC6A1):c.885A>T (p.Ser295=) rs563719346 0.00004
NM_003042.4(SLC6A1):c.888C>T (p.Tyr296=) rs144034291 0.00004
NM_003042.4(SLC6A1):c.1302C>G (p.Ile434Met) rs200670508 0.00003
NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=) rs145387062 0.00003
NM_003042.4(SLC6A1):c.1732G>A (p.Val578Ile) rs369359690 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=) rs372085480 0.00003
NM_003042.4(SLC6A1):c.966C>T (p.Ile322=) rs757627416 0.00003
NM_003042.4(SLC6A1):c.1738C>T (p.Pro580Ser) rs747243516 0.00002
NM_003042.4(SLC6A1):c.378C>T (p.Gly126=) rs767614653 0.00002
NM_003042.4(SLC6A1):c.807C>T (p.Leu269=) rs769006572 0.00002
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=) rs138166453 0.00002
NM_003042.4(SLC6A1):c.1435C>A (p.Arg479=) rs745529755 0.00001
NM_003042.4(SLC6A1):c.144G>T (p.Lys48Asn) rs751216831 0.00001
NM_003042.4(SLC6A1):c.1528-5T>C rs748037660 0.00001
NM_003042.4(SLC6A1):c.1560G>A (p.Thr520=) rs780977371 0.00001
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr) rs755011081 0.00001
NM_003042.4(SLC6A1):c.1785G>A (p.Lys595=) rs536318043 0.00001
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn) rs751108300 0.00001
NM_003042.4(SLC6A1):c.351G>A (p.Lys117=) rs148698856 0.00001
NM_003042.4(SLC6A1):c.371-5C>T rs1297168513 0.00001
NM_003042.4(SLC6A1):c.582-3C>T rs368174761 0.00001
NM_003042.4(SLC6A1):c.72T>C (p.Asn24=) rs774478277 0.00001
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile) rs1403165900 0.00001
NM_003042.4(SLC6A1):c.1094T>C (p.Phe365Ser)
NM_003042.4(SLC6A1):c.1104C>G (p.Tyr368Ter)
NM_003042.4(SLC6A1):c.1140C>T (p.Leu380=)
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter) rs1553690452
NM_003042.4(SLC6A1):c.1259G>A (p.Arg420Lys)
NM_003042.4(SLC6A1):c.1303G>A (p.Gly435Ser)
NM_003042.4(SLC6A1):c.1328G>T (p.Gly443Val) rs1697891755
NM_003042.4(SLC6A1):c.1353C>G (p.Asp451Glu) rs1553691122
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
NM_003042.4(SLC6A1):c.1401A>G (p.Glu467=)
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu) rs758351251
NM_003042.4(SLC6A1):c.1558A>G (p.Thr520Ala)
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
NM_003042.4(SLC6A1):c.1595G>A (p.Trp532Ter) rs1559640454
NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)
NM_003042.4(SLC6A1):c.163A>G (p.Met55Val)
NM_003042.4(SLC6A1):c.1701C>G (p.Ile567Met)
NM_003042.4(SLC6A1):c.1721G>A (p.Ser574Asn)
NM_003042.4(SLC6A1):c.1721G>C (p.Ser574Thr)
NM_003042.4(SLC6A1):c.1721G>T (p.Ser574Ile)
NM_003042.4(SLC6A1):c.1736G>A (p.Arg579His)
NM_003042.4(SLC6A1):c.233G>C (p.Gly78Ala) rs1697199338
NM_003042.4(SLC6A1):c.270C>T (p.Leu90=)
NM_003042.4(SLC6A1):c.287C>T (p.Pro96Leu)
NM_003042.4(SLC6A1):c.309C>T (p.Ser103=)
NM_003042.4(SLC6A1):c.330C>T (p.Ile110=)
NM_003042.4(SLC6A1):c.354G>A (p.Leu118=) rs1029839205
NM_003042.4(SLC6A1):c.372C>T (p.Gly124=)
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg) rs1697264679
NM_003042.4(SLC6A1):c.467C>A (p.Thr156Asn)
NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)
NM_003042.4(SLC6A1):c.543C>A (p.Asn181Lys)
NM_003042.4(SLC6A1):c.544A>G (p.Thr182Ala)
NM_003042.4(SLC6A1):c.553A>C (p.Met185Leu)
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu) rs146894194
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.651G>T (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.660C>A (p.Ile220=) rs760984163
NM_003042.4(SLC6A1):c.684_689del (p.Cys228_Ile229del)
NM_003042.4(SLC6A1):c.703T>C (p.Trp235Arg)
NM_003042.4(SLC6A1):c.770G>A (p.Arg257His)
NM_003042.4(SLC6A1):c.783G>C (p.Leu261=)
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser) rs1553689580
NM_003042.4(SLC6A1):c.850-2A>G rs1553689664
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu) rs1559630133
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.885A>C (p.Ser295=) rs563719346
NM_003042.4(SLC6A1):c.969C>T (p.Val323=)
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_003042.4(SLC6A1):c.984G>A (p.Ser328=) rs748162040

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