ClinVar Miner

List of variants in gene SLC6A1 reported as likely benign for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 340
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=) rs35513423 0.01020
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=) rs35972647 0.00702
NM_003042.4(SLC6A1):c.953+19G>A rs113968319 0.00077
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=) rs150519659 0.00058
NM_003042.4(SLC6A1):c.1275T>G (p.Ala425=) rs33999096 0.00029
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.726T>C (p.Phe242=) rs765861626 0.00016
NM_003042.4(SLC6A1):c.1092G>A (p.Ala364=) rs199998696 0.00014
NM_003042.4(SLC6A1):c.1191+8_1191+9insA rs761247510 0.00012
NM_003042.4(SLC6A1):c.1041T>C (p.His347=) rs371611997 0.00011
NM_003042.4(SLC6A1):c.987C>T (p.Cys329=) rs141488919 0.00011
NM_003042.4(SLC6A1):c.837G>C (p.Leu279=) rs141874821 0.00010
NM_003042.4(SLC6A1):c.1008C>T (p.Phe336=) rs144261418 0.00009
NM_003042.4(SLC6A1):c.1071G>A (p.Ala357=) rs1139553 0.00008
NM_003042.4(SLC6A1):c.1335T>C (p.Tyr445=) rs758040188 0.00007
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_003042.4(SLC6A1):c.371-9C>T rs368461369 0.00006
NM_003042.4(SLC6A1):c.891G>A (p.Gly297=) rs151039956 0.00006
NM_003042.4(SLC6A1):c.1032C>T (p.Phe344=) rs370079283 0.00005
NM_003042.4(SLC6A1):c.258T>C (p.Tyr86=) rs765030652 0.00005
NM_003042.4(SLC6A1):c.381T>C (p.Leu127=) rs753023286 0.00005
NM_003042.4(SLC6A1):c.715-16C>T rs761013218 0.00005
NM_003042.4(SLC6A1):c.1317C>T (p.Ile439=) rs918740589 0.00004
NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=) rs201643896 0.00004
NM_003042.4(SLC6A1):c.1527+16G>A rs189002557 0.00004
NM_003042.4(SLC6A1):c.1528-18C>T rs754211094 0.00004
NM_003042.4(SLC6A1):c.1696-4A>G rs773416770 0.00004
NM_003042.4(SLC6A1):c.318G>A (p.Gln106=) rs370359077 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.582-7T>G rs201191000 0.00004
NM_003042.4(SLC6A1):c.850-4A>G rs780311335 0.00004
NM_003042.4(SLC6A1):c.888C>T (p.Tyr296=) rs144034291 0.00004
NM_003042.4(SLC6A1):c.1191+11C>T rs764670075 0.00003
NM_003042.4(SLC6A1):c.1191+8C>T rs1259297873 0.00003
NM_003042.4(SLC6A1):c.1224G>A (p.Leu408=) rs1422692085 0.00003
NM_003042.4(SLC6A1):c.1516A>G (p.Ile506Val) rs529455113 0.00003
NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=) rs145387062 0.00003
NM_003042.4(SLC6A1):c.1731C>T (p.Ile577=) rs778960516 0.00003
NM_003042.4(SLC6A1):c.660C>T (p.Ile220=) rs760984163 0.00003
NM_003042.4(SLC6A1):c.779C>T (p.Thr260Met) rs777446246 0.00003
NM_003042.4(SLC6A1):c.849+9C>T rs370642265 0.00003
NM_003042.4(SLC6A1):c.966C>T (p.Ile322=) rs757627416 0.00003
NM_003042.4(SLC6A1):c.1023C>T (p.Ile341=) rs775636186 0.00002
NM_003042.4(SLC6A1):c.126C>T (p.Pro42=) rs142759144 0.00002
NM_003042.4(SLC6A1):c.129C>A (p.Asp43Glu) rs371207948 0.00002
NM_003042.4(SLC6A1):c.1392G>A (p.Val464=) rs770686295 0.00002
NM_003042.4(SLC6A1):c.378C>T (p.Gly126=) rs767614653 0.00002
NM_003042.4(SLC6A1):c.424G>A (p.Val142Ile) rs746202904 0.00002
NM_003042.4(SLC6A1):c.514C>T (p.Arg172Cys) rs778818301 0.00002
NM_003042.4(SLC6A1):c.715-7C>T rs762522852 0.00002
NM_003042.4(SLC6A1):c.783G>A (p.Leu261=) rs779237172 0.00002
NM_003042.4(SLC6A1):c.786C>T (p.Pro262=) rs373297474 0.00002
NM_003042.4(SLC6A1):c.807C>T (p.Leu269=) rs769006572 0.00002
NM_003042.4(SLC6A1):c.99G>A (p.Lys33=) rs767066259 0.00002
NM_003042.4(SLC6A1):c.1056C>G (p.Ser352=) rs767184689 0.00001
NM_003042.4(SLC6A1):c.1065T>C (p.Asp355=) rs967912210 0.00001
NM_003042.4(SLC6A1):c.1083C>T (p.Pro361=) rs768964697 0.00001
NM_003042.4(SLC6A1):c.1096C>T (p.Leu366=) rs1410013974 0.00001
NM_003042.4(SLC6A1):c.1137A>G (p.Pro379=) rs774667916 0.00001
NM_003042.4(SLC6A1):c.114G>A (p.Ala38=) rs139224269 0.00001
NM_003042.4(SLC6A1):c.1191+7G>A rs753558292 0.00001
NM_003042.4(SLC6A1):c.1249C>T (p.Arg417Cys) rs774371133 0.00001
NM_003042.4(SLC6A1):c.12C>T (p.Asn4=) rs978516736 0.00001
NM_003042.4(SLC6A1):c.1323+17C>G rs1697783020 0.00001
NM_003042.4(SLC6A1):c.1324-14T>A rs1228458713 0.00001
NM_003042.4(SLC6A1):c.1324-9A>G rs758526997 0.00001
NM_003042.4(SLC6A1):c.1383G>C (p.Leu461=) rs1160002015 0.00001
NM_003042.4(SLC6A1):c.1426+13C>G rs776382632 0.00001
NM_003042.4(SLC6A1):c.1426+7A>G rs1697896460 0.00001
NM_003042.4(SLC6A1):c.1527+11G>A rs1006629615 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.1624C>T (p.Leu542=) rs746102316 0.00001
NM_003042.4(SLC6A1):c.1683C>T (p.Gly561=) rs777068422 0.00001
NM_003042.4(SLC6A1):c.1696-7C>T rs770154222 0.00001
NM_003042.4(SLC6A1):c.1767G>A (p.Ala589=) rs748298652 0.00001
NM_003042.4(SLC6A1):c.1785G>A (p.Lys595=) rs536318043 0.00001
NM_003042.4(SLC6A1):c.1791C>G (p.Ala597=) rs202231185 0.00001
NM_003042.4(SLC6A1):c.186C>T (p.Ile62=) rs1465313059 0.00001
NM_003042.4(SLC6A1):c.222C>T (p.Cys74=) rs139045747 0.00001
NM_003042.4(SLC6A1):c.239-13T>C rs763764950 0.00001
NM_003042.4(SLC6A1):c.271A>G (p.Ile91Val) rs758250115 0.00001
NM_003042.4(SLC6A1):c.291C>A (p.Leu97=) rs1424265759 0.00001
NM_003042.4(SLC6A1):c.333G>A (p.Gly111=) rs749594860 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.371-8G>A rs774167411 0.00001
NM_003042.4(SLC6A1):c.396A>G (p.Leu132=) rs754242081 0.00001
NM_003042.4(SLC6A1):c.453G>A (p.Leu151=) rs1697264815 0.00001
NM_003042.4(SLC6A1):c.471G>A (p.Thr157=) rs780692463 0.00001
NM_003042.4(SLC6A1):c.474A>C (p.Thr158=) rs780468448 0.00001
NM_003042.4(SLC6A1):c.546T>G (p.Thr182=) rs760766783 0.00001
NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys) rs769934894 0.00001
NM_003042.4(SLC6A1):c.585C>T (p.Arg195=) rs978823137 0.00001
NM_003042.4(SLC6A1):c.603G>A (p.Thr201=) rs762985616 0.00001
NM_003042.4(SLC6A1):c.72T>C (p.Asn24=) rs774478277 0.00001
NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu) rs142007193 0.00001
NM_003042.4(SLC6A1):c.798G>A (p.Glu266=) rs1211147356 0.00001
NM_003042.4(SLC6A1):c.828C>T (p.Phe276=) rs1176975543 0.00001
NM_003042.4(SLC6A1):c.850-18T>C rs760273801 0.00001
NM_003042.4(SLC6A1):c.850-5T>C rs1398769799 0.00001
NM_003042.4(SLC6A1):c.918C>T (p.Leu306=) rs775332356 0.00001
NM_003042.4(SLC6A1):c.929A>G (p.Asn310Ser) rs896013015 0.00001
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile) rs1403165900 0.00001
NC_000003.11:g.(?_11067125)_(11078652_?)dup
NM_003042.4(SLC6A1):c.1000G>T (p.Ala334Ser) rs749240316
NM_003042.4(SLC6A1):c.1009G>A (p.Val337Ile)
NM_003042.4(SLC6A1):c.1050G>A (p.Lys350=)
NM_003042.4(SLC6A1):c.1050G>C (p.Lys350Asn)
NM_003042.4(SLC6A1):c.1078+15G>A
NM_003042.4(SLC6A1):c.1079-12T>G
NM_003042.4(SLC6A1):c.1079-15C>T
NM_003042.4(SLC6A1):c.1079-6G>A rs779733732
NM_003042.4(SLC6A1):c.1080C>T (p.Gly360=) rs1697747513
NM_003042.4(SLC6A1):c.1092G>C (p.Ala364=) rs199998696
NM_003042.4(SLC6A1):c.109_110delinsGC (p.Lys37Ala) rs1697191777
NM_003042.4(SLC6A1):c.1131C>A (p.Ile377=)
NM_003042.4(SLC6A1):c.1140C>T (p.Leu380=)
NM_003042.4(SLC6A1):c.114G>C (p.Ala38=) rs139224269
NM_003042.4(SLC6A1):c.1152C>T (p.Leu384=) rs759942621
NM_003042.4(SLC6A1):c.1159_1161del (p.Ser387del)
NM_003042.4(SLC6A1):c.1191+10C>A
NM_003042.4(SLC6A1):c.1191+11C>G
NM_003042.4(SLC6A1):c.1191+13C>A rs780177003
NM_003042.4(SLC6A1):c.1191+13C>T rs780177003
NM_003042.4(SLC6A1):c.1191+15C>A rs781558890
NM_003042.4(SLC6A1):c.1191+15C>G rs781558890
NM_003042.4(SLC6A1):c.1191+17C>A
NM_003042.4(SLC6A1):c.1191+17C>G rs538418973
NM_003042.4(SLC6A1):c.1191+17C>T rs538418973
NM_003042.4(SLC6A1):c.1191+9G>A rs761322748
NM_003042.4(SLC6A1):c.1191+9G>C rs761322748
NM_003042.4(SLC6A1):c.1191+9G>T rs761322748
NM_003042.4(SLC6A1):c.1191+9del
NM_003042.4(SLC6A1):c.1192-18C>A
NM_003042.4(SLC6A1):c.1192-5T>C
NM_003042.4(SLC6A1):c.1192-6del rs765936552
NM_003042.4(SLC6A1):c.1192-7C>T
NM_003042.4(SLC6A1):c.1209C>T (p.Gly403=)
NM_003042.4(SLC6A1):c.1221C>T (p.Ala407=)
NM_003042.4(SLC6A1):c.1222C>T (p.Leu408=)
NM_003042.4(SLC6A1):c.1224G>C (p.Leu408=)
NM_003042.4(SLC6A1):c.1233G>A (p.Glu411=)
NM_003042.4(SLC6A1):c.1234T>C (p.Tyr412His) rs2124931904
NM_003042.4(SLC6A1):c.1236C>T (p.Tyr412=) rs549028843
NM_003042.4(SLC6A1):c.1239C>T (p.Pro413=) rs2124931931
NM_003042.4(SLC6A1):c.1248C>A (p.Leu416=) rs1553690572
NM_003042.4(SLC6A1):c.1266C>T (p.Leu422=)
NM_003042.4(SLC6A1):c.126C>G (p.Pro42=)
NM_003042.4(SLC6A1):c.127G>A (p.Asp43Asn) rs764382700
NM_003042.4(SLC6A1):c.1297C>T (p.Leu433=)
NM_003042.4(SLC6A1):c.1302C>T (p.Ile434=) rs200670508
NM_003042.4(SLC6A1):c.1323+11T>C
NM_003042.4(SLC6A1):c.1323+18C>A
NM_003042.4(SLC6A1):c.1324-15C>T
NM_003042.4(SLC6A1):c.1324-4G>C
NM_003042.4(SLC6A1):c.1324-7C>T rs780416796
NM_003042.4(SLC6A1):c.1326G>A (p.Gly442=)
NM_003042.4(SLC6A1):c.1326G>C (p.Gly442=)
NM_003042.4(SLC6A1):c.1359C>T (p.Tyr453=)
NM_003042.4(SLC6A1):c.135C>T (p.Asp45=)
NM_003042.4(SLC6A1):c.1368T>C (p.Ser456=) rs2124936859
NM_003042.4(SLC6A1):c.137C>T (p.Thr46Met) rs762550927
NM_003042.4(SLC6A1):c.1380G>A (p.Leu460=)
NM_003042.4(SLC6A1):c.1383G>A (p.Leu461=)
NM_003042.4(SLC6A1):c.1386C>T (p.Phe462=)
NM_003042.4(SLC6A1):c.1389C>T (p.Leu463=)
NM_003042.4(SLC6A1):c.138G>C (p.Thr46=)
NM_003042.4(SLC6A1):c.138G>T (p.Thr46=)
NM_003042.4(SLC6A1):c.1390G>A (p.Val464Met)
NM_003042.4(SLC6A1):c.1391T>A (p.Val464Glu) rs1697894833
NM_003042.4(SLC6A1):c.1395C>T (p.Phe465=) rs2124936955
NM_003042.4(SLC6A1):c.1401A>G (p.Glu467=)
NM_003042.4(SLC6A1):c.1426+17C>T
NM_003042.4(SLC6A1):c.1427-10_1427-7del
NM_003042.4(SLC6A1):c.1427-11C>A
NM_003042.4(SLC6A1):c.1427-15C>T
NM_003042.4(SLC6A1):c.1427-18C>A
NM_003042.4(SLC6A1):c.1427-18C>G
NM_003042.4(SLC6A1):c.1427-4del
NM_003042.4(SLC6A1):c.1427-8T>C rs753100039
NM_003042.4(SLC6A1):c.1442A>T (p.Tyr481Phe)
NM_003042.4(SLC6A1):c.1443T>C (p.Tyr481=) rs1574922500
NM_003042.4(SLC6A1):c.144G>A (p.Lys48=)
NM_003042.4(SLC6A1):c.1470C>T (p.Ser490=)
NM_003042.4(SLC6A1):c.147C>T (p.Gly49=)
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys) rs754493263
NM_003042.4(SLC6A1):c.1494C>T (p.Leu498=) rs2124942591
NM_003042.4(SLC6A1):c.1512A>G (p.Thr504=) rs2124942636
NM_003042.4(SLC6A1):c.1517T>C (p.Ile506Thr)
NM_003042.4(SLC6A1):c.1520T>C (p.Ile507Thr) rs1574922686
NM_003042.4(SLC6A1):c.1527+12G>T
NM_003042.4(SLC6A1):c.1527+7A>G
NM_003042.4(SLC6A1):c.1527+8C>A
NM_003042.4(SLC6A1):c.1528-14T>A
NM_003042.4(SLC6A1):c.1528-14T>C
NM_003042.4(SLC6A1):c.1528-16C>T rs1402116303
NM_003042.4(SLC6A1):c.1528-6C>T
NM_003042.4(SLC6A1):c.1528-8C>A rs1348558990
NM_003042.4(SLC6A1):c.1533G>A (p.Val511=) rs1276757037
NM_003042.4(SLC6A1):c.1560G>T (p.Thr520=)
NM_003042.4(SLC6A1):c.1563A>G (p.Pro521=)
NM_003042.4(SLC6A1):c.1578C>T (p.Asn526=) rs1698067347
NM_003042.4(SLC6A1):c.159C>T (p.Phe53=)
NM_003042.4(SLC6A1):c.1608G>A (p.Val536=)
NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)
NM_003042.4(SLC6A1):c.162C>G (p.Leu54=) rs752627902
NM_003042.4(SLC6A1):c.162C>T (p.Leu54=)
NM_003042.4(SLC6A1):c.1644C>T (p.Ile548=) rs200481115
NM_003042.4(SLC6A1):c.1647C>G (p.Pro549=) rs2272401
NM_003042.4(SLC6A1):c.1650G>A (p.Gly550=) rs1175292635
NM_003042.4(SLC6A1):c.1652A>G (p.Tyr551Cys) rs2124944638
NM_003042.4(SLC6A1):c.1662C>T (p.Tyr554=)
NM_003042.4(SLC6A1):c.1673C>A (p.Thr558Asn)
NM_003042.4(SLC6A1):c.1686C>T (p.Ser562=) rs1698071519
NM_003042.4(SLC6A1):c.1695+13C>G
NM_003042.4(SLC6A1):c.1695+16C>T
NM_003042.4(SLC6A1):c.1696-12C>G rs773131260
NM_003042.4(SLC6A1):c.1696-12C>T
NM_003042.4(SLC6A1):c.1697G>A (p.Arg566His) rs767142926
NM_003042.4(SLC6A1):c.1698C>T (p.Arg566=)
NM_003042.4(SLC6A1):c.1705G>A (p.Val569Ile) rs1193651446
NM_003042.4(SLC6A1):c.1711G>A (p.Val571Ile)
NM_003042.4(SLC6A1):c.1717C>T (p.Pro573Ser) rs760120415
NM_003042.4(SLC6A1):c.1722C>G (p.Ser574Arg) rs145387062
NM_003042.4(SLC6A1):c.1735C>T (p.Arg579Cys)
NM_003042.4(SLC6A1):c.1736G>A (p.Arg579His)
NM_003042.4(SLC6A1):c.1740A>G (p.Pro580=)
NM_003042.4(SLC6A1):c.1746T>C (p.Asn582=) rs2124949321
NM_003042.4(SLC6A1):c.1749T>C (p.Gly583=)
NM_003042.4(SLC6A1):c.1752T>C (p.Pro584=)
NM_003042.4(SLC6A1):c.1773C>G (p.Ser591Arg) rs956462752
NM_003042.4(SLC6A1):c.1776C>T (p.Ser592=)
NM_003042.4(SLC6A1):c.1797C>A (p.Ile599=) rs1698168556
NM_003042.4(SLC6A1):c.190C>T (p.Leu64=)
NM_003042.4(SLC6A1):c.201C>T (p.Val67=) rs1574891179
NM_003042.4(SLC6A1):c.238+15G>A
NM_003042.4(SLC6A1):c.238+18G>T
NM_003042.4(SLC6A1):c.238+7G>A rs2124905739
NM_003042.4(SLC6A1):c.238+8C>T
NM_003042.4(SLC6A1):c.238+9T>C rs2124905757
NM_003042.4(SLC6A1):c.239-18T>C
NM_003042.4(SLC6A1):c.239-6C>T rs1270790611
NM_003042.4(SLC6A1):c.255C>T (p.Pro85=)
NM_003042.4(SLC6A1):c.27C>T (p.Ala9=) rs985468330
NM_003042.4(SLC6A1):c.300G>A (p.Leu100=)
NM_003042.4(SLC6A1):c.309C>T (p.Ser103=)
NM_003042.4(SLC6A1):c.323C>A (p.Thr108Asn)
NM_003042.4(SLC6A1):c.336G>T (p.Gly112=)
NM_003042.4(SLC6A1):c.342G>T (p.Gly114=)
NM_003042.4(SLC6A1):c.354G>A (p.Leu118=) rs1029839205
NM_003042.4(SLC6A1):c.354G>T (p.Leu118=) rs1029839205
NM_003042.4(SLC6A1):c.360T>C (p.Pro120=) rs776026803
NM_003042.4(SLC6A1):c.366C>T (p.Phe122=) rs1697225966
NM_003042.4(SLC6A1):c.370+15C>T
NM_003042.4(SLC6A1):c.370+16A>G
NM_003042.4(SLC6A1):c.370+17G>A
NM_003042.4(SLC6A1):c.370+18G>A
NM_003042.4(SLC6A1):c.370+18G>C
NM_003042.4(SLC6A1):c.371-16dup
NM_003042.4(SLC6A1):c.371-5C>G
NM_003042.4(SLC6A1):c.372C>T (p.Gly124=)
NM_003042.4(SLC6A1):c.417C>T (p.Tyr139=)
NM_003042.4(SLC6A1):c.423C>T (p.Ile141=)
NM_003042.4(SLC6A1):c.471+11C>A
NM_003042.4(SLC6A1):c.471+14T>A
NM_003042.4(SLC6A1):c.471+8G>T
NM_003042.4(SLC6A1):c.472-10G>T
NM_003042.4(SLC6A1):c.472-10_472-9del
NM_003042.4(SLC6A1):c.472-5T>C rs1574896904
NM_003042.4(SLC6A1):c.472-8C>T
NM_003042.4(SLC6A1):c.480G>A (p.Pro160=)
NM_003042.4(SLC6A1):c.549C>T (p.Thr183=)
NM_003042.4(SLC6A1):c.561C>T (p.Ser187=) rs1553688537
NM_003042.4(SLC6A1):c.564T>A (p.Ala188=)
NM_003042.4(SLC6A1):c.570G>A (p.Val190=)
NM_003042.4(SLC6A1):c.581+12G>T
NM_003042.4(SLC6A1):c.581+18A>C rs2124912794
NM_003042.4(SLC6A1):c.581+18_581+19del
NM_003042.4(SLC6A1):c.582-10G>C rs746794580
NM_003042.4(SLC6A1):c.582-10G>T rs746794580
NM_003042.4(SLC6A1):c.582-9_582-6del rs2124917521
NM_003042.4(SLC6A1):c.5C>A (p.Ala2Glu) rs913073947
NM_003042.4(SLC6A1):c.5C>T (p.Ala2Val)
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
NM_003042.4(SLC6A1):c.606C>T (p.Asp202=)
NM_003042.4(SLC6A1):c.609G>C (p.Gly203=)
NM_003042.4(SLC6A1):c.618G>A (p.Lys206=) rs761767066
NM_003042.4(SLC6A1):c.658A>G (p.Ile220Val) rs754749693
NM_003042.4(SLC6A1):c.676T>C (p.Tyr226His)
NM_003042.4(SLC6A1):c.684T>C (p.Cys228=) rs1697443650
NM_003042.4(SLC6A1):c.69C>T (p.Ala23=)
NM_003042.4(SLC6A1):c.700G>A (p.Gly234Ser) rs2124917991
NM_003042.4(SLC6A1):c.714+17C>T
NM_003042.4(SLC6A1):c.714+18A>G
NM_003042.4(SLC6A1):c.720C>T (p.Val240=) rs2124924042
NM_003042.4(SLC6A1):c.732C>T (p.Ala244=)
NM_003042.4(SLC6A1):c.735A>T (p.Thr245=)
NM_003042.4(SLC6A1):c.747C>A (p.Ile249=) rs1052037726
NM_003042.4(SLC6A1):c.751C>T (p.Leu251=)
NM_003042.4(SLC6A1):c.762G>A (p.Leu254=) rs1574906506
NM_003042.4(SLC6A1):c.784C>T (p.Pro262Ser) rs1574906592
NM_003042.4(SLC6A1):c.789G>T (p.Gly263=) rs772195247
NM_003042.4(SLC6A1):c.804C>T (p.Ile268=)
NM_003042.4(SLC6A1):c.829C>A (p.Arg277Ser) rs377383740
NM_003042.4(SLC6A1):c.831C>T (p.Arg277=)
NM_003042.4(SLC6A1):c.837G>A (p.Leu279=)
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys) rs1697587984
NM_003042.4(SLC6A1):c.849+10C>T rs2124924582
NM_003042.4(SLC6A1):c.849+8C>A rs1298534380
NM_003042.4(SLC6A1):c.850-19T>C
NM_003042.4(SLC6A1):c.850-7C>T
NM_003042.4(SLC6A1):c.856C>T (p.Leu286=)
NM_003042.4(SLC6A1):c.885A>C (p.Ser295=) rs563719346
NM_003042.4(SLC6A1):c.891G>C (p.Gly297=) rs151039956
NM_003042.4(SLC6A1):c.903G>C (p.Gly301=) rs756380074
NM_003042.4(SLC6A1):c.903G>T (p.Gly301=) rs756380074
NM_003042.4(SLC6A1):c.906C>A (p.Ser302=) rs1239880200
NM_003042.4(SLC6A1):c.945T>C (p.Asn315=)
NM_003042.4(SLC6A1):c.953+12_953+22del
NM_003042.4(SLC6A1):c.953+13A>C
NM_003042.4(SLC6A1):c.953+14G>T
NM_003042.4(SLC6A1):c.953+20G>A
NM_003042.4(SLC6A1):c.953+9G>A rs761823218
NM_003042.4(SLC6A1):c.954-10C>G
NM_003042.4(SLC6A1):c.954-15C>T
NM_003042.4(SLC6A1):c.954-17C>A
NM_003042.4(SLC6A1):c.954-17C>T
NM_003042.4(SLC6A1):c.954-6C>G
NM_003042.4(SLC6A1):c.954-8C>G
NM_003042.4(SLC6A1):c.954-9T>A
NM_003042.4(SLC6A1):c.961A>G (p.Ile321Val)
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_003042.4(SLC6A1):c.984G>A (p.Ser328=) rs748162040
NM_003042.4(SLC6A1):c.984G>C (p.Ser328=) rs748162040
NM_003042.4(SLC6A1):c.984G>T (p.Ser328=)
NM_003042.4(SLC6A1):c.9C>A (p.Thr3=)

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.