ClinVar Miner

List of variants in gene SLC6A8 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676 0.00362
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_005629.4(SLC6A8):c.1496-18C>T rs201867256 0.00203
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368 0.00177
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=) rs143019641 0.00073
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00063
NM_005629.4(SLC6A8):c.1597-19G>A rs202118923 0.00057
NM_005629.4(SLC6A8):c.1016+9C>T rs190690083 0.00047
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=) rs140601882 0.00042
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059 0.00033
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=) rs144252036 0.00024
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726 0.00024
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129 0.00023
NM_005629.4(SLC6A8):c.807C>T (p.Tyr269=) rs141219551 0.00023
NM_005629.4(SLC6A8):c.645-14C>T rs782227426 0.00021
NM_005629.4(SLC6A8):c.819C>T (p.Val273=) rs143750068 0.00021
NM_005629.4(SLC6A8):c.1016+10G>A rs371905179 0.00017
NM_005629.4(SLC6A8):c.645-6C>T rs377181706 0.00016
NM_005629.4(SLC6A8):c.-11C>T rs781794844 0.00014
NM_005629.4(SLC6A8):c.1016+12C>T rs182984520 0.00014
NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=) rs368950125 0.00013
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118 0.00013
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) rs782114947 0.00011
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=) rs138634140 0.00011
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793 0.00011
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547 0.00010
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394 0.00010
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=) rs149677083 0.00010
NM_005629.4(SLC6A8):c.912+9G>A rs782694291 0.00010
NM_005629.4(SLC6A8):c.1141+6G>A rs373124777 0.00009
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) rs376421364 0.00009
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=) rs375818489 0.00009
NM_005629.4(SLC6A8):c.856C>T (p.Leu286=) rs782005985 0.00009
NM_005629.4(SLC6A8):c.912+15G>A rs1456582785 0.00009
NM_005629.4(SLC6A8):c.1497A>G (p.Gly499=) rs199640501 0.00008
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452 0.00008
NM_005629.4(SLC6A8):c.1830C>T (p.Asp610=) rs1803330 0.00008
NM_005629.4(SLC6A8):c.1597-20C>T rs781894858 0.00007
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672 0.00006
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) rs369716393 0.00006
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=) rs1411836045 0.00006
NM_005629.4(SLC6A8):c.1496-17G>A rs375265267 0.00006
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=) rs782066930 0.00005
NM_005629.4(SLC6A8):c.1597-5C>T rs376073223 0.00005
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_005629.4(SLC6A8):c.1874G>A (p.Ser625Asn) rs1181103233 0.00005
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=) rs782808736 0.00005
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657 0.00005
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_005629.4(SLC6A8):c.1313A>T (p.Tyr438Phe) rs1403716189 0.00004
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) rs2872524 0.00004
NM_005629.4(SLC6A8):c.1885G>A (p.Val629Ile) rs781899045 0.00004
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) rs782040427 0.00004
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934 0.00004
NM_005629.4(SLC6A8):c.1161C>T (p.Ile387=) rs782582952 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005629.4(SLC6A8):c.1870G>A (p.Glu624Lys) rs368555229 0.00003
NM_005629.4(SLC6A8):c.234C>T (p.Phe78=) rs1229187797 0.00003
NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=) rs781788160 0.00002
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=) rs782302903 0.00002
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=) rs781974297 0.00002
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=) rs369726574 0.00002
NM_005629.4(SLC6A8):c.1698G>C (p.Leu566=) rs782287646 0.00002
NM_005629.4(SLC6A8):c.1731G>A (p.Leu577=) rs1603217844 0.00002
NM_005629.4(SLC6A8):c.1767G>A (p.Glu589=) rs1131691726 0.00002
NM_005629.4(SLC6A8):c.1831G>A (p.Ala611Thr) rs146949376 0.00002
NM_005629.4(SLC6A8):c.1879A>C (p.Lys627Gln) rs201637740 0.00002
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile) rs1557044413 0.00002
NM_005629.4(SLC6A8):c.639C>T (p.Phe213=) rs1057523082 0.00002
NM_005629.4(SLC6A8):c.644+8C>T rs782433720 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_005629.4(SLC6A8):c.*18C>G rs782159926 0.00001
NM_005629.4(SLC6A8):c.1008C>T (p.Asn336=) rs782239150 0.00001
NM_005629.4(SLC6A8):c.1053C>G (p.Thr351=) rs1557045138 0.00001
NM_005629.4(SLC6A8):c.1131G>A (p.Val377=) rs1569539384 0.00001
NM_005629.4(SLC6A8):c.1172G>A (p.Arg391Gln) rs782676733 0.00001
NM_005629.4(SLC6A8):c.127C>T (p.Pro43Ser) rs1185738875 0.00001
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=) rs782667574 0.00001
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=) rs1463546168 0.00001
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005629.4(SLC6A8):c.1404C>T (p.Tyr468=) rs782696303 0.00001
NM_005629.4(SLC6A8):c.1405G>A (p.Val469Ile) rs1557045470 0.00001
NM_005629.4(SLC6A8):c.1512G>T (p.Met504Ile) rs782325571 0.00001
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg) rs782000377 0.00001
NM_005629.4(SLC6A8):c.1578C>A (p.Phe526Leu) rs1557045574 0.00001
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=) rs2314070 0.00001
NM_005629.4(SLC6A8):c.1768-10T>C rs1459295373 0.00001
NM_005629.4(SLC6A8):c.1768-16T>C rs370937021 0.00001
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=) rs782128137 0.00001
NM_005629.4(SLC6A8):c.395-9C>T rs782540675 0.00001
NM_005629.4(SLC6A8):c.405C>T (p.Tyr135=) rs782249346 0.00001
NM_005629.4(SLC6A8):c.459C>T (p.Ala153=) rs782593568 0.00001
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) rs372601430 0.00001
NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr) rs1238996324 0.00001
NM_005629.4(SLC6A8):c.627T>C (p.Pro209=) rs1057521539 0.00001
NM_005629.4(SLC6A8):c.644+20G>A rs782635587 0.00001
NM_005629.4(SLC6A8):c.896A>C (p.Lys299Thr) rs782767368 0.00001
NM_005629.4(SLC6A8):c.913-13G>T rs1176497805 0.00001
NM_005629.4(SLC6A8):c.951C>T (p.Tyr317=) rs371516458 0.00001
NM_005629.4(SLC6A8):c.*3_*7del rs1064794768
NM_005629.4(SLC6A8):c.-5del rs1557043702
NM_005629.4(SLC6A8):c.-6G>T rs1158351366
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1016+5G>A rs2148363009
NM_005629.4(SLC6A8):c.1048G>A (p.Gly350Arg) rs2148363200
NM_005629.4(SLC6A8):c.1050G>C (p.Gly350=) rs1403430635
NM_005629.4(SLC6A8):c.1071C>G (p.Phe357Leu) rs782782179
NM_005629.4(SLC6A8):c.1072G>C (p.Val358Leu) rs781834528
NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del) rs886041471
NM_005629.4(SLC6A8):c.113T>A (p.Val38Glu) rs2148358486
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.114G>A (p.Val38=) rs2148358489
NM_005629.4(SLC6A8):c.1161C>G (p.Ile387Met) rs782582952
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu) rs2148363661
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1214T>C (p.Leu405Pro) rs2091472678
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1245C>G (p.Leu415=) rs782030501
NM_005629.4(SLC6A8):c.1250G>A (p.Ser417Asn) rs1057520594
NM_005629.4(SLC6A8):c.1254+1G>A rs1557045333
NM_005629.4(SLC6A8):c.1254+5G>C
NM_005629.4(SLC6A8):c.1255-2A>G rs886042005
NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp) rs1085308011
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs) rs886041818
NM_005629.4(SLC6A8):c.1310A>G (p.Tyr437Cys) rs1557045400
NM_005629.4(SLC6A8):c.1323C>T (p.Phe441=) rs1057523404
NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe) rs2091474639
NM_005629.4(SLC6A8):c.1379C>G (p.Ser460Cys)
NM_005629.4(SLC6A8):c.1390G>T (p.Asp464Tyr)
NM_005629.4(SLC6A8):c.1392+17dup rs781964988
NM_005629.4(SLC6A8):c.1393-6C>G rs2148364146
NM_005629.4(SLC6A8):c.1393-7C>T rs373525249
NM_005629.4(SLC6A8):c.1393-8T>G rs1557045456
NM_005629.4(SLC6A8):c.1394G>A (p.Gly465Asp)
NM_005629.4(SLC6A8):c.1411C>T (p.Gln471Ter) rs1557045475
NM_005629.4(SLC6A8):c.1416G>A (p.Leu472=) rs1557045478
NM_005629.4(SLC6A8):c.1422_1434delinsTTGACTACTACTACAG (p.Tyr475_Ala478delinsTer) rs886041845
NM_005629.4(SLC6A8):c.1430C>T (p.Ser477Leu) rs2148364216
NM_005629.4(SLC6A8):c.1438G>A (p.Gly480Ser) rs2148364228
NM_005629.4(SLC6A8):c.1481T>C (p.Val494Ala)
NM_005629.4(SLC6A8):c.1495+8A>G rs1057523669
NM_005629.4(SLC6A8):c.1518C>T (p.Asp506=) rs1603217612
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
NM_005629.4(SLC6A8):c.1526G>A (p.Cys509Tyr) rs2148364452
NM_005629.4(SLC6A8):c.1534G>A (p.Gly512Arg)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1574T>C (p.Phe525Ser)
NM_005629.4(SLC6A8):c.15C>A (p.Ser5Arg) rs1557043724
NM_005629.4(SLC6A8):c.1632G>C (p.Pro544=) rs782393373
NM_005629.4(SLC6A8):c.1640ACA[2] (p.Asn549del) rs781807874
NM_005629.4(SLC6A8):c.1668G>A (p.Trp556Ter) rs1557045704
NM_005629.4(SLC6A8):c.1677C>T (p.Ala559=) rs1057522460
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu) rs201044530
NM_005629.4(SLC6A8):c.1692C>T (p.Phe564=) rs201044530
NM_005629.4(SLC6A8):c.1693G>A (p.Ala565Thr)
NM_005629.4(SLC6A8):c.1696C>G (p.Leu566Val) rs1557045724
NM_005629.4(SLC6A8):c.1761G>C (p.Met587Ile) rs2148364886
NM_005629.4(SLC6A8):c.1762G>A (p.Ala588Thr)
NM_005629.4(SLC6A8):c.1767+11C>A rs782709232
NM_005629.4(SLC6A8):c.1767+11C>T rs782709232
NM_005629.4(SLC6A8):c.1767+20C>T rs782612504
NM_005629.4(SLC6A8):c.1767+5G>A rs1557045744
NM_005629.4(SLC6A8):c.1767+8_1767+11dup rs1185206859
NM_005629.4(SLC6A8):c.1819C>T (p.Arg607Ter) rs1377233837
NM_005629.4(SLC6A8):c.1820G>A (p.Arg607Gln) rs1557045843
NM_005629.4(SLC6A8):c.1861C>A (p.Pro621Thr) rs782388832
NM_005629.4(SLC6A8):c.1861C>T (p.Pro621Ser) rs782388832
NM_005629.4(SLC6A8):c.1888G>T (p.Val630Leu) rs373570632
NM_005629.4(SLC6A8):c.1901T>A (p.Val634Asp) rs1236176576
NM_005629.4(SLC6A8):c.247T>C (p.Tyr83His)
NM_005629.4(SLC6A8):c.249C>A (p.Tyr83Ter) rs2148358634
NM_005629.4(SLC6A8):c.263-1G>A rs1557044165
NM_005629.4(SLC6A8):c.267G>A (p.Val89=) rs1557044166
NM_005629.4(SLC6A8):c.295C>G (p.Leu99Val) rs2091448804
NM_005629.4(SLC6A8):c.299T>C (p.Val100Ala)
NM_005629.4(SLC6A8):c.30C>T (p.Ile10=) rs1057522627
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.323T>C (p.Leu108Ser)
NM_005629.4(SLC6A8):c.332C>T (p.Ser111Leu) rs782704042
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=) rs1557044183
NM_005629.4(SLC6A8):c.356del (p.Gly119fs) rs1603214377
NM_005629.4(SLC6A8):c.439TAC[1] (p.Tyr148del)
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del) rs2091455264
NM_005629.4(SLC6A8):c.471T>C (p.Tyr157=) rs1057521561
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu) rs1057524586
NM_005629.4(SLC6A8):c.491C>T (p.Thr164Ile)
NM_005629.4(SLC6A8):c.493A>C (p.Thr165Pro)
NM_005629.4(SLC6A8):c.538G>A (p.Asp180Asn)
NM_005629.4(SLC6A8):c.548A>G (p.Glu183Gly)
NM_005629.4(SLC6A8):c.551T>A (p.Ile184Asn)
NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs) rs1557044442
NM_005629.4(SLC6A8):c.593T>G (p.Leu198Arg)
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp) rs1557044461
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.634G>A (p.Glu212Lys)
NM_005629.4(SLC6A8):c.644+3_644+6del rs1064795351
NM_005629.4(SLC6A8):c.667G>A (p.Gly223Arg)
NM_005629.4(SLC6A8):c.681G>A (p.Val227=) rs370508642
NM_005629.4(SLC6A8):c.716T>C (p.Leu239Pro) rs2148361704
NM_005629.4(SLC6A8):c.748_749del (p.Val250fs) rs1557044569
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.7A>G (p.Lys3Glu)
NM_005629.4(SLC6A8):c.877C>G (p.Leu293Val)
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.905C>G (p.Ser302Cys) rs1183910478
NM_005629.4(SLC6A8):c.912+19G>A rs782518872
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His) rs1064794836
NM_005629.4(SLC6A8):c.913-17C>G rs1057524229
NM_005629.4(SLC6A8):c.924T>A (p.Asp308Glu)
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp) rs1603216830
NM_005629.4(SLC6A8):c.980T>C (p.Leu327Pro) rs1557045056
NM_005629.4(SLC6A8):c.990C>T (p.Tyr330=) rs1057523301

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