ClinVar Miner

List of variants in gene SLC6A5 reported as likely benign for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 348
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HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=) rs61736605 0.00773
NM_004211.5(SLC6A5):c.2306G>A (p.Arg769His) rs75450512 0.00305
NM_004211.5(SLC6A5):c.1554C>T (p.Phe518=) rs143680068 0.00088
NM_004211.5(SLC6A5):c.1738-8_1738-7del rs771768092 0.00060
NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val) rs200496125 0.00056
NM_004211.5(SLC6A5):c.1899C>T (p.Asp633=) rs139047641 0.00039
NM_004211.5(SLC6A5):c.2125C>T (p.Arg709Cys) rs151244472 0.00034
NM_004211.5(SLC6A5):c.419C>A (p.Thr140Asn) rs144285788 0.00033
NM_004211.5(SLC6A5):c.150T>G (p.Arg50=) rs772388914 0.00025
NM_004211.5(SLC6A5):c.1077C>T (p.Phe359=) rs111388315 0.00020
NM_004211.5(SLC6A5):c.1863C>T (p.Ile621=) rs147344601 0.00019
NM_004211.5(SLC6A5):c.1059C>T (p.Asn353=) rs377270882 0.00014
NM_004211.5(SLC6A5):c.1046C>T (p.Thr349Ile) rs201604337 0.00012
NM_004211.5(SLC6A5):c.1239A>G (p.Lys413=) rs1049082253 0.00011
NM_004211.5(SLC6A5):c.1627C>T (p.Pro543Ser) rs555858151 0.00011
NM_004211.5(SLC6A5):c.2166C>T (p.Leu722=) rs138242228 0.00011
NM_004211.5(SLC6A5):c.2258C>T (p.Ser753Leu) rs1715297 0.00011
NM_004211.5(SLC6A5):c.1696A>G (p.Ile566Val) rs200003617 0.00008
NM_004211.5(SLC6A5):c.1261-12T>C rs765415133 0.00007
NM_004211.5(SLC6A5):c.1572C>T (p.Ile524=) rs139526317 0.00006
NM_004211.5(SLC6A5):c.1602C>T (p.Asn534=) rs770754817 0.00006
NM_004211.5(SLC6A5):c.1683G>A (p.Pro561=) rs147215703 0.00006
NM_004211.5(SLC6A5):c.21G>A (p.Lys7=) rs984820371 0.00006
NM_004211.5(SLC6A5):c.267G>T (p.Ala89=) rs569857405 0.00006
NM_004211.5(SLC6A5):c.309G>T (p.Ala103=) rs763390370 0.00006
NM_004211.5(SLC6A5):c.356A>G (p.His119Arg) rs201319465 0.00006
NM_004211.5(SLC6A5):c.541-15C>A rs546551639 0.00006
NM_004211.5(SLC6A5):c.169A>G (p.Thr57Ala) rs539354561 0.00005
NM_004211.5(SLC6A5):c.340C>T (p.Pro114Ser) rs746842267 0.00005
NM_004211.5(SLC6A5):c.726A>G (p.Leu242=) rs111550381 0.00005
NM_004211.5(SLC6A5):c.812-15T>C rs368287325 0.00005
NM_004211.5(SLC6A5):c.1048G>A (p.Ala350Thr) rs759580965 0.00004
NM_004211.5(SLC6A5):c.1281G>A (p.Thr427=) rs148416271 0.00004
NM_004211.5(SLC6A5):c.1653G>A (p.Pro551=) rs200961564 0.00004
NM_004211.5(SLC6A5):c.1738-9C>T rs1230319643 0.00004
NM_004211.5(SLC6A5):c.183T>G (p.Thr61=) rs760268719 0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_004211.5(SLC6A5):c.2268G>A (p.Pro756=) rs373204248 0.00004
NM_004211.5(SLC6A5):c.1287G>A (p.Pro429=) rs536309591 0.00003
NM_004211.5(SLC6A5):c.1293C>T (p.Val431=) rs367746184 0.00003
NM_004211.5(SLC6A5):c.1323C>T (p.Val441=) rs572329486 0.00003
NM_004211.5(SLC6A5):c.1776C>T (p.Asp592=) rs376668924 0.00003
NM_004211.5(SLC6A5):c.1948G>A (p.Val650Met) rs143967107 0.00003
NM_004211.5(SLC6A5):c.2127C>A (p.Arg709=) rs749237379 0.00003
NM_004211.5(SLC6A5):c.2280A>G (p.Pro760=) rs760968008 0.00003
NM_004211.5(SLC6A5):c.2290C>G (p.Gln764Glu) rs753956513 0.00003
NM_004211.5(SLC6A5):c.2298C>T (p.Arg766=) rs534286800 0.00003
NM_004211.5(SLC6A5):c.2322C>T (p.Ile774=) rs141663413 0.00003
NM_004211.5(SLC6A5):c.375G>T (p.Leu125=) rs563708600 0.00003
NM_004211.5(SLC6A5):c.66G>A (p.Ala22=) rs557384426 0.00003
NM_004211.5(SLC6A5):c.807A>G (p.Leu269=) rs1020431122 0.00003
NM_004211.5(SLC6A5):c.1007A>C (p.His336Pro) rs753404579 0.00002
NM_004211.5(SLC6A5):c.1200C>T (p.Leu400=) rs369502336 0.00002
NM_004211.5(SLC6A5):c.1251T>C (p.Thr417=) rs376466697 0.00002
NM_004211.5(SLC6A5):c.1260+18T>C rs768206940 0.00002
NM_004211.5(SLC6A5):c.1959T>C (p.Ser653=) rs201879532 0.00002
NM_004211.5(SLC6A5):c.390G>A (p.Gly130=) rs755829819 0.00002
NM_004211.5(SLC6A5):c.513G>A (p.Pro171=) rs1486407794 0.00002
NM_004211.5(SLC6A5):c.541-19T>C rs749443916 0.00002
NM_004211.5(SLC6A5):c.798C>T (p.Ile266=) rs746701792 0.00002
NM_004211.5(SLC6A5):c.825G>A (p.Ala275=) rs770266189 0.00002
NM_004211.5(SLC6A5):c.1026G>A (p.Lys342=) rs368128242 0.00001
NM_004211.5(SLC6A5):c.1032G>A (p.Ser344=) rs758648041 0.00001
NM_004211.5(SLC6A5):c.1170C>T (p.Gly390=) rs369546941 0.00001
NM_004211.5(SLC6A5):c.1260+16T>C rs1852813438 0.00001
NM_004211.5(SLC6A5):c.1266G>A (p.Val422=) rs766480639 0.00001
NM_004211.5(SLC6A5):c.1275G>A (p.Thr425=) rs371391494 0.00001
NM_004211.5(SLC6A5):c.1470T>C (p.Ser490=) rs1027077568 0.00001
NM_004211.5(SLC6A5):c.1499+13A>G rs370366356 0.00001
NM_004211.5(SLC6A5):c.1533C>T (p.Ala511=) rs368623393 0.00001
NM_004211.5(SLC6A5):c.1624+9C>T rs745823180 0.00001
NM_004211.5(SLC6A5):c.1704C>T (p.Phe568=) rs1348780417 0.00001
NM_004211.5(SLC6A5):c.1869+10C>T rs757029224 0.00001
NM_004211.5(SLC6A5):c.1902C>T (p.Thr634=) rs755575687 0.00001
NM_004211.5(SLC6A5):c.1914C>T (p.Ser638=) rs1240241197 0.00001
NM_004211.5(SLC6A5):c.1926C>T (p.Val642=) rs770858807 0.00001
NM_004211.5(SLC6A5):c.1962T>C (p.Tyr654=) rs751120377 0.00001
NM_004211.5(SLC6A5):c.2112C>T (p.Thr704=) rs1251486699 0.00001
NM_004211.5(SLC6A5):c.2115T>C (p.Tyr705=) rs766659746 0.00001
NM_004211.5(SLC6A5):c.2151C>T (p.Leu717=) rs150429051 0.00001
NM_004211.5(SLC6A5):c.2362G>A (p.Val788Met) rs774095713 0.00001
NM_004211.5(SLC6A5):c.2377C>T (p.Leu793=) rs1341473905 0.00001
NM_004211.5(SLC6A5):c.3+20C>T rs777931284 0.00001
NM_004211.5(SLC6A5):c.4-11T>C rs774039277 0.00001
NM_004211.5(SLC6A5):c.45C>T (p.Asn15=) rs779446341 0.00001
NM_004211.5(SLC6A5):c.528C>T (p.Thr176=) rs573629406 0.00001
NM_004211.5(SLC6A5):c.534C>T (p.Ala178=) rs1315392036 0.00001
NM_004211.5(SLC6A5):c.621C>T (p.Tyr207=) rs781151093 0.00001
NM_004211.5(SLC6A5):c.813C>T (p.Gly271=) rs1401531960 0.00001
NM_004211.5(SLC6A5):c.822C>T (p.Ile274=) rs776289288 0.00001
NM_004211.5(SLC6A5):c.916C>T (p.Leu306=) rs121908496 0.00001
NM_004211.5(SLC6A5):c.921C>T (p.Pro307=) rs566070819 0.00001
NM_004211.5(SLC6A5):c.985+10G>C rs1479664288 0.00001
NM_004211.5(SLC6A5):c.1023C>T (p.Ile341=)
NM_004211.5(SLC6A5):c.1035T>G (p.Thr345=)
NM_004211.5(SLC6A5):c.1047C>G (p.Thr349=)
NM_004211.5(SLC6A5):c.1062G>A (p.Val354=) rs1372389585
NM_004211.5(SLC6A5):c.1125C>T (p.Phe375=)
NM_004211.5(SLC6A5):c.1127+19T>C
NM_004211.5(SLC6A5):c.1127+8G>T
NM_004211.5(SLC6A5):c.1128-11C>A rs771874539
NM_004211.5(SLC6A5):c.1128-15C>G rs2133788151
NM_004211.5(SLC6A5):c.1137G>T (p.Val379=)
NM_004211.5(SLC6A5):c.1170C>A (p.Gly390=)
NM_004211.5(SLC6A5):c.1176C>A (p.Ile392=) rs2133788262
NM_004211.5(SLC6A5):c.1185A>G (p.Pro395=)
NM_004211.5(SLC6A5):c.1185A>T (p.Pro395=)
NM_004211.5(SLC6A5):c.1230A>C (p.Ser410=) rs7925597
NM_004211.5(SLC6A5):c.123C>A (p.Pro41=)
NM_004211.5(SLC6A5):c.1245C>T (p.Ile415=)
NM_004211.5(SLC6A5):c.1260+13A>G rs546552269
NM_004211.5(SLC6A5):c.1260+9T>C
NM_004211.5(SLC6A5):c.1261-13A>G
NM_004211.5(SLC6A5):c.1261-17G>A rs1853001259
NM_004211.5(SLC6A5):c.1261-19C>A rs2133798376
NM_004211.5(SLC6A5):c.1261-5T>C rs1853001503
NM_004211.5(SLC6A5):c.1261-9C>T
NM_004211.5(SLC6A5):c.126G>T (p.Ala42=)
NM_004211.5(SLC6A5):c.1284C>T (p.Phe428=)
NM_004211.5(SLC6A5):c.1299C>T (p.Leu433=)
NM_004211.5(SLC6A5):c.1305C>A (p.Ile435=)
NM_004211.5(SLC6A5):c.1311C>T (p.Leu437=)
NM_004211.5(SLC6A5):c.1329G>A (p.Leu443=) rs1756211369
NM_004211.5(SLC6A5):c.132C>A (p.Ala44=)
NM_004211.5(SLC6A5):c.132C>G (p.Ala44=)
NM_004211.5(SLC6A5):c.1332T>A (p.Pro444=) rs1373803710
NM_004211.5(SLC6A5):c.1335A>T (p.Gly445=)
NM_004211.5(SLC6A5):c.1338T>G (p.Ala446=) rs766390257
NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly) rs755131121
NM_004211.5(SLC6A5):c.135C>T (p.Ala45=)
NM_004211.5(SLC6A5):c.1386G>A (p.Thr462=) rs544994371
NM_004211.5(SLC6A5):c.1386G>T (p.Thr462=) rs544994371
NM_004211.5(SLC6A5):c.1386_1387delinsAA (p.Asp463Asn) rs2133798628
NM_004211.5(SLC6A5):c.1395+12A>G
NM_004211.5(SLC6A5):c.1395+16T>C
NM_004211.5(SLC6A5):c.1396-12T>C
NM_004211.5(SLC6A5):c.1396-13T>A
NM_004211.5(SLC6A5):c.1396-15C>T
NM_004211.5(SLC6A5):c.1396-16C>G rs2133799962
NM_004211.5(SLC6A5):c.1396-19T>A
NM_004211.5(SLC6A5):c.1396-19T>C
NM_004211.5(SLC6A5):c.1396-5C>A
NM_004211.5(SLC6A5):c.1396-6T>C
NM_004211.5(SLC6A5):c.1396-7C>A
NM_004211.5(SLC6A5):c.1396-8C>T
NM_004211.5(SLC6A5):c.1407T>C (p.Asp469=) rs1853033038
NM_004211.5(SLC6A5):c.1443A>G (p.Ala481=) rs1352575247
NM_004211.5(SLC6A5):c.1443A>T (p.Ala481=) rs1352575247
NM_004211.5(SLC6A5):c.1449A>C (p.Gly483=)
NM_004211.5(SLC6A5):c.144G>C (p.Pro48=)
NM_004211.5(SLC6A5):c.1452C>G (p.Gly484=)
NM_004211.5(SLC6A5):c.1473C>T (p.Tyr491=)
NM_004211.5(SLC6A5):c.1500-13C>T
NM_004211.5(SLC6A5):c.1500-16G>T
NM_004211.5(SLC6A5):c.1500-20C>T rs1463013210
NM_004211.5(SLC6A5):c.1500-4C>T
NM_004211.5(SLC6A5):c.1506T>C (p.Thr502=)
NM_004211.5(SLC6A5):c.1548C>A (p.Ala516=)
NM_004211.5(SLC6A5):c.1560C>T (p.Ile520=)
NM_004211.5(SLC6A5):c.1563C>T (p.Phe521=)
NM_004211.5(SLC6A5):c.1566C>T (p.Ser522=)
NM_004211.5(SLC6A5):c.1599C>G (p.Val533=) rs1590171374
NM_004211.5(SLC6A5):c.1620C>T (p.Asp540=)
NM_004211.5(SLC6A5):c.1624+19C>G
NM_004211.5(SLC6A5):c.1624+7G>A
NM_004211.5(SLC6A5):c.1625-10T>C
NM_004211.5(SLC6A5):c.1625-10T>G
NM_004211.5(SLC6A5):c.1625-11G>C rs2133808346
NM_004211.5(SLC6A5):c.1625-13T>G
NM_004211.5(SLC6A5):c.1625-7C>T rs1853204334
NM_004211.5(SLC6A5):c.1625-9T>C
NM_004211.5(SLC6A5):c.162C>A (p.Ser54=)
NM_004211.5(SLC6A5):c.1632C>T (p.Gly544=) rs1050225812
NM_004211.5(SLC6A5):c.1659C>T (p.Ala553=)
NM_004211.5(SLC6A5):c.1671G>T (p.Leu557=) rs1565284979
NM_004211.5(SLC6A5):c.1677C>T (p.Leu559=)
NM_004211.5(SLC6A5):c.1713C>T (p.Leu571=) rs192169080
NM_004211.5(SLC6A5):c.1731C>T (p.Asp577=)
NM_004211.5(SLC6A5):c.1738-11C>T
NM_004211.5(SLC6A5):c.1738-15C>T rs766857863
NM_004211.5(SLC6A5):c.1738-20A>G
NM_004211.5(SLC6A5):c.1749C>A (p.Ile583=) rs372092287
NM_004211.5(SLC6A5):c.1749C>T (p.Ile583=)
NM_004211.5(SLC6A5):c.1779G>A (p.Glu593=) rs2133809419
NM_004211.5(SLC6A5):c.1792C>T (p.Leu598=)
NM_004211.5(SLC6A5):c.1824C>G (p.Gly608=)
NM_004211.5(SLC6A5):c.1857A>G (p.Pro619=)
NM_004211.5(SLC6A5):c.1869+16G>A
NM_004211.5(SLC6A5):c.1869+9C>T
NM_004211.5(SLC6A5):c.1870-15T>C
NM_004211.5(SLC6A5):c.1870-18G>T
NM_004211.5(SLC6A5):c.1870-5G>A
NM_004211.5(SLC6A5):c.1872T>G (p.Gly624=) rs969805899
NM_004211.5(SLC6A5):c.1881C>T (p.Tyr627=)
NM_004211.5(SLC6A5):c.18C>T (p.Pro6=) rs764731779
NM_004211.5(SLC6A5):c.1905T>C (p.Tyr635=)
NM_004211.5(SLC6A5):c.1920C>T (p.Ala640=)
NM_004211.5(SLC6A5):c.1929C>T (p.Ile643=)
NM_004211.5(SLC6A5):c.1935C>T (p.Ala645=)
NM_004211.5(SLC6A5):c.1947C>T (p.Leu649=)
NM_004211.5(SLC6A5):c.195G>A (p.Ala65=)
NM_004211.5(SLC6A5):c.1969+16T>C rs898046982
NM_004211.5(SLC6A5):c.1969+19C>T rs1853255150
NM_004211.5(SLC6A5):c.1969+20T>C rs2133810934
NM_004211.5(SLC6A5):c.1970-10C>A
NM_004211.5(SLC6A5):c.1970-16G>C
NM_004211.5(SLC6A5):c.1970-4G>T
NM_004211.5(SLC6A5):c.1970-8A>G
NM_004211.5(SLC6A5):c.1970-9T>C rs2133819196
NM_004211.5(SLC6A5):c.1971C>G (p.Gly657=)
NM_004211.5(SLC6A5):c.1980A>G (p.Arg660=)
NM_004211.5(SLC6A5):c.201G>A (p.Ala67=) rs750917084
NM_004211.5(SLC6A5):c.2025C>T (p.Ile675=)
NM_004211.5(SLC6A5):c.2026T>G (p.Phe676Val) rs562578394
NM_004211.5(SLC6A5):c.204A>G (p.Arg68=)
NM_004211.5(SLC6A5):c.2070+16G>A
NM_004211.5(SLC6A5):c.2071-11T>C
NM_004211.5(SLC6A5):c.2071-7T>C
NM_004211.5(SLC6A5):c.2151C>G (p.Leu717=)
NM_004211.5(SLC6A5):c.2175C>T (p.Ser725=)
NM_004211.5(SLC6A5):c.2217G>A (p.Leu739=)
NM_004211.5(SLC6A5):c.2239-8del
NM_004211.5(SLC6A5):c.2241G>A (p.Arg747=)
NM_004211.5(SLC6A5):c.2259G>A (p.Ser753=)
NM_004211.5(SLC6A5):c.2259G>T (p.Ser753=) rs369433798
NM_004211.5(SLC6A5):c.225A>G (p.Pro75=) rs1205577391
NM_004211.5(SLC6A5):c.228A>T (p.Gly76=)
NM_004211.5(SLC6A5):c.2293C>A (p.His765Asn)
NM_004211.5(SLC6A5):c.2310C>T (p.Tyr770=)
NM_004211.5(SLC6A5):c.2313G>A (p.Lys771=) rs2133827656
NM_004211.5(SLC6A5):c.2323G>C (p.Asp775His) rs776857479
NM_004211.5(SLC6A5):c.2340T>C (p.Ser780=)
NM_004211.5(SLC6A5):c.2356C>T (p.Leu786=) rs1035286521
NM_004211.5(SLC6A5):c.2367G>A (p.Lys789=)
NM_004211.5(SLC6A5):c.2379G>T (p.Leu793=)
NM_004211.5(SLC6A5):c.246C>T (p.Leu82=) rs1374623528
NM_004211.5(SLC6A5):c.249T>C (p.Ser83=) rs2133768029
NM_004211.5(SLC6A5):c.252C>T (p.Ser84=)
NM_004211.5(SLC6A5):c.261G>A (p.Ala87=)
NM_004211.5(SLC6A5):c.261G>C (p.Ala87=)
NM_004211.5(SLC6A5):c.261G>T (p.Ala87=)
NM_004211.5(SLC6A5):c.264G>A (p.Gln88=)
NM_004211.5(SLC6A5):c.280C>T (p.Leu94=)
NM_004211.5(SLC6A5):c.283C>A (p.Arg95=)
NM_004211.5(SLC6A5):c.3+11G>C
NM_004211.5(SLC6A5):c.3+15T>C
NM_004211.5(SLC6A5):c.3+16T>A
NM_004211.5(SLC6A5):c.3+18T>G
NM_004211.5(SLC6A5):c.3+8T>A
NM_004211.5(SLC6A5):c.3+8_3+11del
NM_004211.5(SLC6A5):c.306C>T (p.Gly102=)
NM_004211.5(SLC6A5):c.318G>C (p.Ser106=)
NM_004211.5(SLC6A5):c.327C>A (p.Pro109=) rs767784671
NM_004211.5(SLC6A5):c.327C>T (p.Pro109=) rs767784671
NM_004211.5(SLC6A5):c.330G>A (p.Gly110=)
NM_004211.5(SLC6A5):c.336C>G (p.Ser112=)
NM_004211.5(SLC6A5):c.351G>A (p.Ala117=)
NM_004211.5(SLC6A5):c.351G>C (p.Ala117=) rs370151412
NM_004211.5(SLC6A5):c.351_352delinsAT (p.Ala117_Leu118=) rs2133768275
NM_004211.5(SLC6A5):c.360T>C (p.Cys120=)
NM_004211.5(SLC6A5):c.373C>T (p.Leu125=) rs1380651088
NM_004211.5(SLC6A5):c.381C>T (p.Gly127=)
NM_004211.5(SLC6A5):c.384G>A (p.Pro128=)
NM_004211.5(SLC6A5):c.387G>A (p.Glu129=)
NM_004211.5(SLC6A5):c.4-12T>C
NM_004211.5(SLC6A5):c.4-13A>C
NM_004211.5(SLC6A5):c.4-15A>G
NM_004211.5(SLC6A5):c.4-8_4-7insCTC
NM_004211.5(SLC6A5):c.421C>T (p.Leu141=)
NM_004211.5(SLC6A5):c.429G>T (p.Arg143=) rs1312832221
NM_004211.5(SLC6A5):c.435T>C (p.Asn145=) rs375679521
NM_004211.5(SLC6A5):c.438C>A (p.Thr146=) rs752552283
NM_004211.5(SLC6A5):c.450C>G (p.Gly150=)
NM_004211.5(SLC6A5):c.474C>G (p.Thr158=)
NM_004211.5(SLC6A5):c.477G>C (p.Val159=) rs1288211274
NM_004211.5(SLC6A5):c.480G>T (p.Val160=)
NM_004211.5(SLC6A5):c.489G>T (p.Thr163=)
NM_004211.5(SLC6A5):c.498C>T (p.Ile166=) rs1264509257
NM_004211.5(SLC6A5):c.501G>A (p.Thr167=)
NM_004211.5(SLC6A5):c.504C>G (p.Ser168=)
NM_004211.5(SLC6A5):c.516C>T (p.Gly172=) rs747444143
NM_004211.5(SLC6A5):c.51G>A (p.Pro17=) rs1326565040
NM_004211.5(SLC6A5):c.528C>A (p.Thr176=)
NM_004211.5(SLC6A5):c.540+13C>T
NM_004211.5(SLC6A5):c.540+14A>C rs2133768675
NM_004211.5(SLC6A5):c.540+18C>T
NM_004211.5(SLC6A5):c.540+20G>A
NM_004211.5(SLC6A5):c.541-18G>A rs927897041
NM_004211.5(SLC6A5):c.541-6C>T rs1247087234
NM_004211.5(SLC6A5):c.541-7C>T rs1852533278
NM_004211.5(SLC6A5):c.541-9C>G rs775616432
NM_004211.5(SLC6A5):c.546C>T (p.Asp182=) rs138199033
NM_004211.5(SLC6A5):c.555G>A (p.Gly185=)
NM_004211.5(SLC6A5):c.573A>T (p.Arg191=)
NM_004211.5(SLC6A5):c.630G>T (p.Gly210=)
NM_004211.5(SLC6A5):c.668A>G (p.Gln223Arg)
NM_004211.5(SLC6A5):c.679+13C>T
NM_004211.5(SLC6A5):c.679+20T>C
NM_004211.5(SLC6A5):c.679+7C>A rs2133771636
NM_004211.5(SLC6A5):c.680-11C>A
NM_004211.5(SLC6A5):c.680-13del
NM_004211.5(SLC6A5):c.680-16C>T
NM_004211.5(SLC6A5):c.680-18C>A
NM_004211.5(SLC6A5):c.680-20C>G
NM_004211.5(SLC6A5):c.680-4C>T rs2133774624
NM_004211.5(SLC6A5):c.691A>G (p.Ile231Val)
NM_004211.5(SLC6A5):c.693C>T (p.Ile231=)
NM_004211.5(SLC6A5):c.699C>T (p.Tyr233=)
NM_004211.5(SLC6A5):c.709C>T (p.Leu237=)
NM_004211.5(SLC6A5):c.711G>A (p.Leu237=)
NM_004211.5(SLC6A5):c.715C>T (p.Leu239=) rs2133774714
NM_004211.5(SLC6A5):c.72C>T (p.Gly24=)
NM_004211.5(SLC6A5):c.739T>C (p.Leu247=) rs892848321
NM_004211.5(SLC6A5):c.753G>T (p.Leu251=) rs754226256
NM_004211.5(SLC6A5):c.756C>T (p.Gly252=)
NM_004211.5(SLC6A5):c.777A>T (p.Pro259=)
NM_004211.5(SLC6A5):c.78G>A (p.Pro26=)
NM_004211.5(SLC6A5):c.805C>T (p.Leu269=)
NM_004211.5(SLC6A5):c.811+14G>A
NM_004211.5(SLC6A5):c.811+17G>A
NM_004211.5(SLC6A5):c.811+8C>T
NM_004211.5(SLC6A5):c.812-18G>A
NM_004211.5(SLC6A5):c.812-20T>C
NM_004211.5(SLC6A5):c.812-20T>G rs757146180
NM_004211.5(SLC6A5):c.812-4G>T rs1852606118
NM_004211.5(SLC6A5):c.81T>C (p.Asp27=)
NM_004211.5(SLC6A5):c.840T>C (p.Ser280=)
NM_004211.5(SLC6A5):c.855A>C (p.Ile285=) rs1191805948
NM_004211.5(SLC6A5):c.867G>A (p.Val289=)
NM_004211.5(SLC6A5):c.876C>T (p.Cys292=)
NM_004211.5(SLC6A5):c.892C>T (p.Leu298=) rs373707467
NM_004211.5(SLC6A5):c.927C>A (p.Gly309=)
NM_004211.5(SLC6A5):c.927C>G (p.Gly309=)
NM_004211.5(SLC6A5):c.942T>A (p.Pro314=)
NM_004211.5(SLC6A5):c.942T>G (p.Pro314=)
NM_004211.5(SLC6A5):c.950C>T (p.Thr317Met) rs150764554
NM_004211.5(SLC6A5):c.95C>T (p.Pro32Leu) rs527326906
NM_004211.5(SLC6A5):c.96C>T (p.Pro32=) rs886048107
NM_004211.5(SLC6A5):c.982T>C (p.Leu328=)
NM_004211.5(SLC6A5):c.985+14T>C
NM_004211.5(SLC6A5):c.985+16C>G
NM_004211.5(SLC6A5):c.985+17C>G
NM_004211.5(SLC6A5):c.985+7T>C
NM_004211.5(SLC6A5):c.986-13C>T
NM_004211.5(SLC6A5):c.986-18C>T
NM_004211.5(SLC6A5):c.986-9C>T rs1444559242
NM_004211.5(SLC6A5):c.993T>C (p.Cys331=) rs373877201
NM_004211.5(SLC6A5):c.996T>C (p.Val332=)

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