ClinVar Miner

List of variants in gene SLC6A8 studied for X-linked disease

Included ClinVar conditions (313):
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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP
NC_000023.11:g.(?_153688555)_(153688856_?)del
NC_000023.11:g.153694343del rs1603217468
NM_005629.4(SLC6A8):c.-5A>G rs384573
NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp) rs122453116
NM_005629.4(SLC6A8):c.1016+10G>A rs371905179
NM_005629.4(SLC6A8):c.1016+9C>T rs190690083
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=) rs144252036
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) rs369716393
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) rs1603216989
NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs) rs1569539381
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=)
NM_005629.4(SLC6A8):c.1127A>G (p.Lys376Arg)
NM_005629.4(SLC6A8):c.1141+6G>A rs373124777
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) rs122453114
NM_005629.4(SLC6A8):c.1142-2A>C rs1603217176
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1146G>A (p.Pro382=) rs782627741
NM_005629.4(SLC6A8):c.1155C>T (p.Ala385=) rs782477779
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604
NM_005629.4(SLC6A8):c.1164C>A (p.Ala388=) rs1394306160
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=) rs782416756
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1184T>C (p.Leu395Pro) rs1557045281
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=) rs782066930
NM_005629.4(SLC6A8):c.1242T>C (p.Gly414=) rs1458755240
NM_005629.4(SLC6A8):c.1254+6C>T rs782764159
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile) rs1569539415
NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=) rs368950125
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=) rs782667574
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=) rs1463546168
NM_005629.4(SLC6A8):c.1393-7C>T rs373525249
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=) rs782302903
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=) rs781974297
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter) rs1239466041
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) rs376421364
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) rs1569539443
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu) rs1463935788
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) rs122453118
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118
NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter) rs143916832
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.1495+8A>G rs1057523669
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210
NM_005629.4(SLC6A8):c.1496-7G>A rs781814962
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys) rs782488606
NM_005629.4(SLC6A8):c.1505G>A (p.Arg502His) rs1453689278
NM_005629.4(SLC6A8):c.1513_1515GAC[1] (p.Asp506del)
NM_005629.4(SLC6A8):c.1515C>T (p.Asp505=) rs151335200
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg) rs782000377
NM_005629.4(SLC6A8):c.152C>T (p.Pro51Leu)
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) rs782114947
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs) rs1557045581
NM_005629.4(SLC6A8):c.1584G>A (p.Pro528=) rs201838389
NM_005629.4(SLC6A8):c.1597-4G>A rs1312663828
NM_005629.4(SLC6A8):c.1597-5C>T rs376073223
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=) rs369726574
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=) rs140601882
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys) rs782028471
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005629.4(SLC6A8):c.1653C>T (p.Tyr551=) rs369715906
NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter) rs1569539466
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=) rs149677083
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966
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.1703C>A (p.Ser568Tyr) rs1603217815
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=) rs2314070
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295
NM_005629.4(SLC6A8):c.1767+8_1767+11dup rs1185206859
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268
NM_005629.4(SLC6A8):c.1768-8_1768-7del rs782682148
NM_005629.4(SLC6A8):c.1768-9C>G rs782234529
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726
NM_005629.4(SLC6A8):c.1790C>T (p.Pro597Leu) rs1060502811
NM_005629.4(SLC6A8):c.1791C>T (p.Pro597=) rs782481058
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met) rs782587560
NM_005629.4(SLC6A8):c.1798G>A (p.Gly600Ser) rs1557045828
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452
NM_005629.4(SLC6A8):c.1819C>T (p.Arg607Ter)
NM_005629.4(SLC6A8):c.1830C>T (p.Asp610=) rs1803330
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu)
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=) rs782748657
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=) rs782808736
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met) rs373570632
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) rs1236176576
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=) rs782128137
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.263-2A>G rs1569539244
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val) rs1198790754
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=) rs375818489
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) rs782040427
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.333G>A (p.Ser111=) rs781916894
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=) rs1557044183
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) rs122453117
NM_005629.4(SLC6A8):c.42C>T (p.Ser14=) rs1060504719
NM_005629.4(SLC6A8):c.457dup (p.Ala153fs) rs1603215013
NM_005629.4(SLC6A8):c.459C>T (p.Ala153=) rs782593568
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser) rs782174461
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=) rs144904949
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala) rs1603215030
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser) rs199937648
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=) rs202136567
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.543C>T (p.Cys181=) rs1221310274
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) rs1261794545
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) rs372601430
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=) rs143019641
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.644+8C>T rs782433720
NM_005629.4(SLC6A8):c.644+9G>A rs200353790
NM_005629.4(SLC6A8):c.645-6C>T rs377181706
NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter)
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890
NM_005629.4(SLC6A8):c.777+4C>T rs201581661
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368
NM_005629.4(SLC6A8):c.807C>T (p.Tyr269=) rs141219551
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005629.4(SLC6A8):c.819C>T (p.Val273=) rs143750068
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622
NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup) rs1603216676
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val) rs782598816
NM_005629.4(SLC6A8):c.912+9G>A rs782694291
NM_005629.4(SLC6A8):c.913-8T>C rs1557045039
NM_005629.4(SLC6A8):c.927G>A (p.Ala309=) rs781807737
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793
NM_005629.4(SLC6A8):c.93G>A (p.Pro31=) rs782197450
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005629.4(SLC6A8):c.951C>T (p.Tyr317=) rs371516458
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp) rs1603216830
NM_005629.4(SLC6A8):c.972_973CA[1] (p.Thr325fs) rs1060502808
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934
NM_005629.4(SLC6A8):c.984C>G (p.Gly328=) rs1276576915
NM_005629.4(SLC6A8):c.[1429_1430delinsAG];[1429_1596+39del]
Single allele

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