ClinVar Miner

List of variants in gene SLC6A3 studied for SLC6A3-related dopamine transporter deficiency syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 364
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001044.5(SLC6A3):c.1498+14A>G rs429699 0.98180
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) rs6347 0.32752
NM_001044.5(SLC6A3):c.*35T>C rs1042098 0.31144
NM_001044.5(SLC6A3):c.419-12C>A rs460000 0.30619
NM_001044.5(SLC6A3):c.286+20C>G rs8179023 0.09016
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=) rs6348 0.07818
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350 0.05616
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=) rs6346 0.04096
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=) rs6349 0.02926
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=) rs6880875 0.02803
NM_001044.5(SLC6A3):c.653+13C>T rs16878300 0.00986
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=) rs8179035 0.00436
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=) rs28364998 0.00228
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=) rs2270912 0.00194
NM_001044.5(SLC6A3):c.1839+9G>A rs184515054 0.00152
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=) rs115529609 0.00150
NM_001044.5(SLC6A3):c.1032-18C>T rs8179028 0.00090
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=) rs142241083 0.00069
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val) rs28364997 0.00059
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=) rs115160598 0.00057
NM_001044.5(SLC6A3):c.78G>A (p.Pro26=) rs144264359 0.00057
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) rs145114326 0.00044
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) rs8179034 0.00039
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=) rs28363072 0.00035
NM_001044.5(SLC6A3):c.1600-17G>A rs370345490 0.00035
NM_001044.5(SLC6A3):c.456C>T (p.Val152=) rs147399016 0.00034
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) rs201800694 0.00034
NM_001044.5(SLC6A3):c.1498+10G>A rs759848180 0.00033
NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg) rs115282473 0.00029
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile) rs140401978 0.00029
NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly) rs147837176 0.00027
NM_001044.5(SLC6A3):c.1767+13A>G rs28363130 0.00026
NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn) rs200712598 0.00026
NM_001044.5(SLC6A3):c.1269+12G>A rs367687282 0.00025
NM_001044.5(SLC6A3):c.1089C>T (p.Val363=) rs114461544 0.00024
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=) rs8179027 0.00022
NM_001044.5(SLC6A3):c.1032-14T>C rs375742593 0.00021
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=) rs369288905 0.00019
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=) rs201605046 0.00019
NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp) rs149444784 0.00019
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=) rs114563841 0.00018
NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr) rs375720650 0.00016
NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=) rs115254960 0.00013
NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro) rs149180162 0.00013
NM_001044.5(SLC6A3):c.653+14G>A rs374067917 0.00012
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) rs145782788 0.00012
NM_001044.5(SLC6A3):c.385G>A (p.Ala129Thr) rs780852886 0.00011
NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln) rs6345 0.00011
NM_001044.5(SLC6A3):c.792+7C>T rs370881183 0.00010
NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln) rs140639546 0.00009
NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln) rs376797072 0.00009
NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val) rs757597222 0.00009
NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile) rs143342582 0.00009
NM_001044.5(SLC6A3):c.792+10G>A rs199702486 0.00009
NM_001044.5(SLC6A3):c.1600-18C>T rs761610559 0.00008
NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu) rs757417973 0.00008
NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=) rs769456530 0.00007
NM_001044.5(SLC6A3):c.969C>T (p.Gly323=) rs369950427 0.00007
NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=) rs111362222 0.00006
NM_001044.5(SLC6A3):c.1446G>A (p.Thr482=) rs750649054 0.00006
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu) rs146798197 0.00006
NM_001044.5(SLC6A3):c.1767+19C>T rs751182754 0.00006
NM_001044.5(SLC6A3):c.1839+8C>T rs533644928 0.00006
NM_001044.5(SLC6A3):c.330G>A (p.Gly110=) rs112801202 0.00006
NM_001044.5(SLC6A3):c.418+9C>T rs528589234 0.00006
NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=) rs200757674 0.00005
NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=) rs777377892 0.00005
NM_001044.5(SLC6A3):c.895A>G (p.Ser299Gly) rs571552841 0.00005
NM_001044.5(SLC6A3):c.928-18C>T rs373449776 0.00005
NM_001044.5(SLC6A3):c.1037C>T (p.Ala346Val) rs202173303 0.00004
NM_001044.5(SLC6A3):c.1157-15C>T rs375416292 0.00004
NM_001044.5(SLC6A3):c.1269+20C>T rs951684585 0.00004
NM_001044.5(SLC6A3):c.1364C>T (p.Ala455Val) rs370907238 0.00004
NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=) rs777317571 0.00004
NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=) rs766191360 0.00004
NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=) rs138475489 0.00004
NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His) rs200431667 0.00004
NM_001044.5(SLC6A3):c.1dup (p.Met1fs) rs755504692 0.00004
NM_001044.5(SLC6A3):c.360C>T (p.Leu120=) rs148447720 0.00004
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=) rs186229286 0.00004
NM_001044.5(SLC6A3):c.495C>T (p.His165=) rs1052784707 0.00004
NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=) rs376593673 0.00004
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser) rs756042082 0.00004
NM_001044.5(SLC6A3):c.924G>A (p.Ala308=) rs530952208 0.00004
NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=) rs777700658 0.00003
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met) rs577802449 0.00003
NM_001044.5(SLC6A3):c.1269+16C>T rs750007484 0.00003
NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys) rs763131939 0.00003
NM_001044.5(SLC6A3):c.201C>T (p.Ile67=) rs191426052 0.00003
NM_001044.5(SLC6A3):c.384C>T (p.Ala128=) rs771177632 0.00003
NM_001044.5(SLC6A3):c.939C>T (p.Asp313=) rs774707412 0.00003
NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile) rs750843353 0.00002
NM_001044.5(SLC6A3):c.1138G>A (p.Gly380Arg) rs368954324 0.00002
NM_001044.5(SLC6A3):c.1270-10C>T rs756737267 0.00002
NM_001044.5(SLC6A3):c.1386C>T (p.Phe462=) rs765211329 0.00002
NM_001044.5(SLC6A3):c.1499-12C>G rs1048125664 0.00002
NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp) rs778617693 0.00002
NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=) rs1264236301 0.00002
NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn) rs750854317 0.00002
NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg) rs373070875 0.00002
NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met) rs372722904 0.00002
NM_001044.5(SLC6A3):c.287-16C>A rs752277056 0.00002
NM_001044.5(SLC6A3):c.42G>T (p.Val14=) rs767919132 0.00002
NM_001044.5(SLC6A3):c.471C>T (p.Asn157=) rs755940757 0.00002
NM_001044.5(SLC6A3):c.615C>T (p.Asn205=) rs764540812 0.00002
NM_001044.5(SLC6A3):c.642C>T (p.Ala214=) rs369766460 0.00002
NM_001044.5(SLC6A3):c.661G>A (p.Val221Met) rs138948519 0.00002
NM_001044.5(SLC6A3):c.1081G>A (p.Gly361Ser) rs766875221 0.00001
NM_001044.5(SLC6A3):c.1110C>T (p.Tyr370=) rs146814731 0.00001
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu) rs267607069 0.00001
NM_001044.5(SLC6A3):c.1185G>A (p.Pro395=) rs372175437 0.00001
NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=) rs199564835 0.00001
NM_001044.5(SLC6A3):c.1269+1G>A rs431905504 0.00001
NM_001044.5(SLC6A3):c.129C>T (p.Thr43=) rs1179801580 0.00001
NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=) rs762754512 0.00001
NM_001044.5(SLC6A3):c.1350C>T (p.Leu450=) rs1373372460 0.00001
NM_001044.5(SLC6A3):c.1398+4C>T rs567904721 0.00001
NM_001044.5(SLC6A3):c.1411G>A (p.Val471Ile) rs75916702 0.00001
NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=) rs764518683 0.00001
NM_001044.5(SLC6A3):c.1499-14C>T rs774641284 0.00001
NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln) rs774827862 0.00001
NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln) rs1236294203 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001044.5(SLC6A3):c.1599+13G>A rs763612604 0.00001
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001044.5(SLC6A3):c.163G>A (p.Val55Met) rs751986313 0.00001
NM_001044.5(SLC6A3):c.1771C>T (p.Leu591=) rs376015219 0.00001
NM_001044.5(SLC6A3):c.1783A>G (p.Ile595Val) rs758010586 0.00001
NM_001044.5(SLC6A3):c.1825G>A (p.Val609Met) rs1176423145 0.00001
NM_001044.5(SLC6A3):c.1844G>A (p.Arg615His) rs750470875 0.00001
NM_001044.5(SLC6A3):c.216C>T (p.Ser72=) rs373050350 0.00001
NM_001044.5(SLC6A3):c.285C>T (p.Gly95=) rs201707183 0.00001
NM_001044.5(SLC6A3):c.375G>A (p.Arg125=) rs772708278 0.00001
NM_001044.5(SLC6A3):c.40G>A (p.Val14Met) rs190367530 0.00001
NM_001044.5(SLC6A3):c.419-6C>T rs540824168 0.00001
NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met) rs746715018 0.00001
NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val) rs778416596 0.00001
NM_001044.5(SLC6A3):c.450G>A (p.Leu150=) rs757203667 0.00001
NM_001044.5(SLC6A3):c.472G>A (p.Val158Ile) rs543317006 0.00001
NM_001044.5(SLC6A3):c.48C>A (p.Ala16=) rs762569986 0.00001
NM_001044.5(SLC6A3):c.569C>T (p.Ser190Leu) rs1483254325 0.00001
NM_001044.5(SLC6A3):c.574G>A (p.Ala192Thr) rs200132776 0.00001
NM_001044.5(SLC6A3):c.594T>G (p.Ser198Arg) rs780048733 0.00001
NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg) rs372788698 0.00001
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His) rs753109365 0.00001
NM_001044.5(SLC6A3):c.707C>T (p.Pro236Leu) rs760467074 0.00001
NM_001044.5(SLC6A3):c.732G>C (p.Leu244=) rs771007893 0.00001
NM_001044.5(SLC6A3):c.742A>G (p.Ile248Val) rs1365255948 0.00001
NM_001044.5(SLC6A3):c.82G>C (p.Glu28Gln) rs866199902 0.00001
NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln) rs748308614 0.00001
NM_001044.5(SLC6A3):c.915C>A (p.Leu305=) rs200732142 0.00001
NM_001044.5(SLC6A3):c.918C>T (p.Cys306=) rs746199611 0.00001
NM_001044.5(SLC6A3):c.935T>C (p.Ile312Thr) rs1756287215 0.00001
NC_000005.9:g.(?_1394830)_(1394893_?)dup
NM_001044.5(SLC6A3):c.1031+1G>A rs431905514
NM_001044.5(SLC6A3):c.1031+6C>T rs767925756
NM_001044.5(SLC6A3):c.1031+71G>T rs40358
NM_001044.5(SLC6A3):c.1032-17G>A
NM_001044.5(SLC6A3):c.1032-20G>A rs200430075
NM_001044.5(SLC6A3):c.1032-20G>C rs200430075
NM_001044.5(SLC6A3):c.1032-5T>C rs1208452818
NM_001044.5(SLC6A3):c.1042G>C (p.Val348Leu) rs1756241093
NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=) rs562538093
NM_001044.5(SLC6A3):c.1083C>G (p.Gly361=)
NM_001044.5(SLC6A3):c.1084T>C (p.Phe362Leu)
NM_001044.5(SLC6A3):c.1087G>C (p.Val363Leu)
NM_001044.5(SLC6A3):c.1090G>A (p.Val364Ile)
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln) rs267607068
NM_001044.5(SLC6A3):c.1104G>A (p.Leu368=)
NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=) rs759094634
NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)
NM_001044.5(SLC6A3):c.1131G>T (p.Val377=)
NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys) rs6350
NM_001044.5(SLC6A3):c.1156+9C>T rs921062478
NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)
NM_001044.5(SLC6A3):c.1157-20C>G rs2126344195
NM_001044.5(SLC6A3):c.1161A>G (p.Pro387=)
NM_001044.5(SLC6A3):c.117A>G (p.Gly39=)
NM_001044.5(SLC6A3):c.1197C>G (p.Ala399=) rs1171195804
NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr) rs1402133250
NM_001044.5(SLC6A3):c.1225G>A (p.Val409Met)
NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=) rs1553985998
NM_001044.5(SLC6A3):c.1251C>T (p.Thr417=)
NM_001044.5(SLC6A3):c.1260C>T (p.Ile420=)
NM_001044.5(SLC6A3):c.1266C>T (p.Ser422=)
NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr) rs1170256759
NM_001044.5(SLC6A3):c.1269+12G>T
NM_001044.5(SLC6A3):c.1269+17G>A rs374618829
NM_001044.5(SLC6A3):c.1269+5G>A rs2126343796
NM_001044.5(SLC6A3):c.1270-12C>T
NM_001044.5(SLC6A3):c.1270-19C>T
NM_001044.5(SLC6A3):c.1270-4G>A
NM_001044.5(SLC6A3):c.1293C>T (p.Ile431=) rs2126340135
NM_001044.5(SLC6A3):c.1299G>T (p.Gly433=) rs1480967154
NM_001044.5(SLC6A3):c.1305C>A (p.Ile435=)
NM_001044.5(SLC6A3):c.1305C>G (p.Ile435Met) rs760545154
NM_001044.5(SLC6A3):c.1305C>T (p.Ile435=) rs760545154
NM_001044.5(SLC6A3):c.1311G>C (p.Glu437Asp) rs752558131
NM_001044.5(SLC6A3):c.132C>T (p.Ser44=)
NM_001044.5(SLC6A3):c.1347G>T (p.Thr449=) rs759854756
NM_001044.5(SLC6A3):c.1359C>T (p.Val453=) rs1399414786
NM_001044.5(SLC6A3):c.1371C>T (p.Phe457=) rs770479961
NM_001044.5(SLC6A3):c.1379C>G (p.Ser460Cys)
NM_001044.5(SLC6A3):c.1398+12C>T
NM_001044.5(SLC6A3):c.1398+13G>A
NM_001044.5(SLC6A3):c.1398+16G>A
NM_001044.5(SLC6A3):c.1398+5G>A rs1756068240
NM_001044.5(SLC6A3):c.1398+5_1398+6dup rs2126339779
NM_001044.5(SLC6A3):c.1399-11C>T
NM_001044.5(SLC6A3):c.1399-11del
NM_001044.5(SLC6A3):c.1399-19A>G
NM_001044.5(SLC6A3):c.1408_1409delinsAG (p.Tyr470Ser) rs2126338512
NM_001044.5(SLC6A3):c.1419G>A (p.Thr473=)
NM_001044.5(SLC6A3):c.1441G>A (p.Gly481Ser)
NM_001044.5(SLC6A3):c.1443C>T (p.Gly481=)
NM_001044.5(SLC6A3):c.1459G>A (p.Gly487Arg) rs2126338372
NM_001044.5(SLC6A3):c.147C>T (p.Asn49=)
NM_001044.5(SLC6A3):c.1485G>A (p.Val495=) rs1756052542
NM_001044.5(SLC6A3):c.1498+13_1498+14delinsTG rs2126338242
NM_001044.5(SLC6A3):c.1498+8C>T
NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)
NM_001044.5(SLC6A3):c.150G>A (p.Pro50=) rs6346
NM_001044.5(SLC6A3):c.1527G>C (p.Gln509His) rs6880875
NM_001044.5(SLC6A3):c.1536C>T (p.Thr512=)
NM_001044.5(SLC6A3):c.1548C>T (p.Pro516=)
NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)
NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)
NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)
NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)
NM_001044.5(SLC6A3):c.1599+12C>G rs150170183
NM_001044.5(SLC6A3):c.1600-9_1600-8delinsCT rs2126324656
NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)
NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)
NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)
NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)
NM_001044.5(SLC6A3):c.162C>A (p.Pro54=)
NM_001044.5(SLC6A3):c.162C>G (p.Pro54=) rs6351
NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)
NM_001044.5(SLC6A3):c.1639C>A (p.His547Asn) rs781299950
NM_001044.5(SLC6A3):c.163G>T (p.Val55Leu)
NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr) rs1423226570
NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)
NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)
NM_001044.5(SLC6A3):c.1675G>A (p.Ala559Thr)
NM_001044.5(SLC6A3):c.1676C>G (p.Ala559Gly)
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=) rs767241571
NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)
NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)
NM_001044.5(SLC6A3):c.1725T>C (p.Tyr575=) rs2126324184
NM_001044.5(SLC6A3):c.1767+14C>T
NM_001044.5(SLC6A3):c.1767+15G>A
NM_001044.5(SLC6A3):c.1767+16G>A
NM_001044.5(SLC6A3):c.1767+2T>C rs2126324037
NM_001044.5(SLC6A3):c.1768-12T>C
NM_001044.5(SLC6A3):c.1768-7C>T rs2126319630
NM_001044.5(SLC6A3):c.1768-7_1768-6del rs781468421
NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)
NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=) rs1310047234
NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)
NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)
NM_001044.5(SLC6A3):c.1806G>A (p.Glu602=) rs2126319427
NM_001044.5(SLC6A3):c.180G>T (p.Arg60=)
NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)
NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys) rs1755834750
NM_001044.5(SLC6A3):c.1839+15C>T
NM_001044.5(SLC6A3):c.1839+9_1839+14del
NM_001044.5(SLC6A3):c.1840-8C>A rs755204020
NM_001044.5(SLC6A3):c.213G>A (p.Leu71=)
NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe) rs1560928848
NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)
NM_001044.5(SLC6A3):c.21C>T (p.Ser7=)
NM_001044.5(SLC6A3):c.231T>C (p.Ala77=)
NM_001044.5(SLC6A3):c.246C>T (p.Asn82=)
NM_001044.5(SLC6A3):c.247G>A (p.Val83Ile)
NM_001044.5(SLC6A3):c.24G>A (p.Val8=)
NM_001044.5(SLC6A3):c.267G>A (p.Leu89=)
NM_001044.5(SLC6A3):c.286+10A>T
NM_001044.5(SLC6A3):c.286+16G>C
NM_001044.5(SLC6A3):c.286+18C>T
NM_001044.5(SLC6A3):c.286+6T>A
NM_001044.5(SLC6A3):c.286+8C>T
NM_001044.5(SLC6A3):c.287-13T>C rs2126412495
NM_001044.5(SLC6A3):c.287-20G>C
NM_001044.5(SLC6A3):c.287-5C>G
NM_001044.5(SLC6A3):c.287-5C>T
NM_001044.5(SLC6A3):c.287-6C>T
NM_001044.5(SLC6A3):c.310C>A (p.Leu104Ile) rs141740642
NM_001044.5(SLC6A3):c.366G>C (p.Gln122His) rs1733660991
NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln) rs746351989
NM_001044.5(SLC6A3):c.409A>G (p.Ile137Val) rs1733660279
NM_001044.5(SLC6A3):c.418+16C>A
NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg) rs1014165579
NM_001044.5(SLC6A3):c.419-12C>G
NM_001044.5(SLC6A3):c.419-16del
NM_001044.5(SLC6A3):c.419-5G>A
NM_001044.5(SLC6A3):c.419-5G>T
NM_001044.5(SLC6A3):c.432G>A (p.Thr144=)
NM_001044.5(SLC6A3):c.444C>T (p.Ile148=) rs186229286
NM_001044.5(SLC6A3):c.457G>A (p.Gly153Ser)
NM_001044.5(SLC6A3):c.480C>T (p.Ile160=)
NM_001044.5(SLC6A3):c.493C>T (p.His165Tyr)
NM_001044.5(SLC6A3):c.50C>A (p.Pro17Gln)
NM_001044.5(SLC6A3):c.554A>G (p.Asn185Ser)
NM_001044.5(SLC6A3):c.57G>A (p.Lys19=) rs1733721886
NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)
NM_001044.5(SLC6A3):c.586G>A (p.Asp196Asn) rs2126394511
NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu) rs149444784
NM_001044.5(SLC6A3):c.616G>C (p.Asp206His)
NM_001044.5(SLC6A3):c.625G>T (p.Gly209Trp)
NM_001044.5(SLC6A3):c.641C>T (p.Ala214Val)
NM_001044.5(SLC6A3):c.653+11G>A
NM_001044.5(SLC6A3):c.653+12T>C
NM_001044.5(SLC6A3):c.653+5G>A rs1756726188
NM_001044.5(SLC6A3):c.654-17C>A
NM_001044.5(SLC6A3):c.654-18G>A
NM_001044.5(SLC6A3):c.654-3C>T
NM_001044.5(SLC6A3):c.654-8C>T
NM_001044.5(SLC6A3):c.655C>T (p.Arg219Cys)
NM_001044.5(SLC6A3):c.660C>T (p.Gly220=)
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro) rs431905515
NM_001044.5(SLC6A3):c.678G>A (p.Gln226=)
NM_001044.5(SLC6A3):c.693C>T (p.Asp231=)
NM_001044.5(SLC6A3):c.69C>T (p.Ala23=)
NM_001044.5(SLC6A3):c.701G>T (p.Gly234Val)
NM_001044.5(SLC6A3):c.708G>A (p.Pro236=)
NM_001044.5(SLC6A3):c.71T>G (p.Val24Gly) rs2126415795
NM_001044.5(SLC6A3):c.732G>A (p.Leu244=)
NM_001044.5(SLC6A3):c.741C>T (p.Val247=)
NM_001044.5(SLC6A3):c.744C>T (p.Ile248=)
NM_001044.5(SLC6A3):c.774C>T (p.Gly258=)
NM_001044.5(SLC6A3):c.792+18C>T
NM_001044.5(SLC6A3):c.792+4A>T
NM_001044.5(SLC6A3):c.792+9C>T
NM_001044.5(SLC6A3):c.793-16C>G rs1756412005
NM_001044.5(SLC6A3):c.793-7C>T
NM_001044.5(SLC6A3):c.810C>G (p.Ala270=)
NM_001044.5(SLC6A3):c.81G>C (p.Lys27Asn) rs915327713
NM_001044.5(SLC6A3):c.823G>A (p.Val275Met) rs141056632
NM_001044.5(SLC6A3):c.837C>G (p.Ala279=) rs2126368210
NM_001044.5(SLC6A3):c.84G>A (p.Glu28=)
NM_001044.5(SLC6A3):c.870C>T (p.Ala290=)
NM_001044.5(SLC6A3):c.875A>G (p.Asp292Gly)
NM_001044.5(SLC6A3):c.876C>A (p.Asp292Glu) rs146615804
NM_001044.5(SLC6A3):c.876C>T (p.Asp292=) rs146615804
NM_001044.5(SLC6A3):c.886G>A (p.Ala296Thr)
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer) rs1756409749
NM_001044.5(SLC6A3):c.897C>T (p.Ser299=)
NM_001044.5(SLC6A3):c.923C>T (p.Ala308Val) rs373667971
NM_001044.5(SLC6A3):c.927+11T>A
NM_001044.5(SLC6A3):c.927+8_927+9del
NM_001044.5(SLC6A3):c.928-12C>G
NM_001044.5(SLC6A3):c.928-16C>T
NM_001044.5(SLC6A3):c.942G>A (p.Ala314=)
NM_001044.5(SLC6A3):c.960C>T (p.Phe320=) rs1260915789
NM_001044.5(SLC6A3):c.963C>T (p.Ser321=)
NM_001044.5(SLC6A3):c.970G>A (p.Val324Met) rs779887018
NM_001044.5(SLC6A3):c.990C>T (p.Ile330=)
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro) rs1756285412
NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala) rs1756285211

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.