ClinVar Miner

List of variants in gene SLC6A3 studied for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 363
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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.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

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