ClinVar Miner

List of variants in gene SLC6A8 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NC_000023.11:g.153694343del
NC_000023.11:g.153694825C>A
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.1104dup (p.Glu369fs) rs1569539381
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
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.1162G>A (p.Ala388Thr) rs374163604
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
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.1218C>T (p.Phe406=) rs1557045310
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile) rs1569539415
NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=) rs781788160
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.1414C>T (p.Leu472=) rs781974297
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter)
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)
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>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235
NM_005629.4(SLC6A8):c.1515C>T (p.Asp505=) rs151335200
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg)
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.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.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.1678A>G (p.Met560Val) rs145438966
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) rs2872524
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=) rs2314070
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295
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.1794C>G (p.Ile598Met)
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.1888G>A (p.Val630Met)
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.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.283G>A (p.Val95Ile) rs782040427
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
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)
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser)
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=) rs144904949
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala)
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
NM_005629.4(SLC6A8):c.644+8C>T rs782433720
NM_005629.4(SLC6A8):c.644+9G>A rs200353790
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
NM_005629.4(SLC6A8):c.777+4C>T rs201581661
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622
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)
NM_005629.4(SLC6A8):c.912+9G>A rs782694291
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
NM_005629.4(SLC6A8):c.93G>A (p.Pro31=) rs782197450
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
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.[1429_1430delinsAG];[1429_1596+39del]

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