ClinVar Miner

List of variants in gene SLC6A8 reported as pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_152959991)_(152960815_?)del
NC_000023.11:g.(?_153688555)_(153688856_?)del
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp) rs122453116
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_005629.4(SLC6A8):c.1037_1038del (p.Leu346fs) rs2148363178
NM_005629.4(SLC6A8):c.1040_1044delinsAAGA (p.Ile347fs) rs2091469248
NM_005629.4(SLC6A8):c.1055G>A (p.Ser352Asn) rs2148363211
NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs) rs1569539381
NM_005629.4(SLC6A8):c.1108C>T (p.Gln370Ter) rs2148363243
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
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.1169C>T (p.Pro390Leu) rs2148363661
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1210del (p.Ala404fs) rs2148363723
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1235_1248del (p.Leu412fs)
NM_005629.4(SLC6A8):c.1283del (p.Gly428fs) rs2148363957
NM_005629.4(SLC6A8):c.1289_1290del (p.Leu430fs)
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs) rs886041818
NM_005629.4(SLC6A8):c.1292_1302del (p.Asp431fs) rs2148363973
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter) rs2091474617
NM_005629.4(SLC6A8):c.1340_1341del (p.Val447fs)
NM_005629.4(SLC6A8):c.1393-12_1395del rs2148364124
NM_005629.4(SLC6A8):c.1394_1399del (p.Gly465_Met467delinsVal) rs2148364156
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter) rs1239466041
NM_005629.4(SLC6A8):c.1429_1430del (p.Ser477fs) rs2091475771
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) rs1569539443
NM_005629.4(SLC6A8):c.1456C>T (p.Gln486Ter)
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) rs122453118
NM_005629.4(SLC6A8):c.1487G>A (p.Trp496Ter)
NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter) rs143916832
NM_005629.4(SLC6A8):c.1495+2T>G
NM_005629.4(SLC6A8):c.1495+5G>C
NM_005629.4(SLC6A8):c.1496-1_1510del rs2148364395
NM_005629.4(SLC6A8):c.149dup (p.Pro51fs)
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1551del (p.Trp518fs) rs2148364489
NM_005629.4(SLC6A8):c.1554G>A (p.Trp518Ter)
NM_005629.4(SLC6A8):c.1556_1557insTTTC (p.Met519fs)
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs) rs1557045581
NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) rs140601882
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1659C>A (p.Tyr553Ter)
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.1667G>A (p.Trp556Ter)
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.263-2A>G rs1569539244
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) rs122453117
NM_005629.4(SLC6A8):c.418_421dup (p.Val141fs) rs2091455005
NM_005629.4(SLC6A8):c.444_445del (p.Ile149fs) rs2148361002
NM_005629.4(SLC6A8):c.453_454insGCTGAGGCGGGAGAATCTCTTGAAGCCGGGAAGCAGAGGTTGCAGTGAACCGACATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAATAAATAAAAATAAAATAAAATAAAACAAGGTCTCATTCTCTTACCCAGGCTGGAGTGCAGTGGTACAATCAGAGCTCACCCCAGCCACAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCCTCCCTTGAATAGCTAGGACTACAAGTGTATGCCTCCAGGCCTGGCTAATTGTTTTTAATTTTTTGGTAGAGGCAGGGATCTCATTGTATTGCCCAGGCTGGGGTCCCAAACTCCTGATCACAAGTGAACCTCCTGCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCTCCCTGACAATTTCTGGCTGCATGGACTTCTGGTTACAAGCAGGGAAACTGAGGCCTGGATACAGCAAACAGGATCTGGCCCAGCTTTAAGTGGGGAACATGCAGTTTGGGGGACCCAGGCTCATGGTG (p.Leu152delinsAlaGluAlaGlyGluSerLeuGluAlaGlyLysGlnArgLeuGlnTer) rs2148361006
NM_005629.4(SLC6A8):c.457dup (p.Ala153fs) rs1603215013
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs) rs1557044442
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.627del (p.Val210fs) rs2148361177
NM_005629.4(SLC6A8):c.634G>T (p.Glu212Ter)
NM_005629.4(SLC6A8):c.635_636del (p.Glu212fs)
NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter) rs2091458828
NM_005629.4(SLC6A8):c.728G>A (p.Trp243Ter)
NM_005629.4(SLC6A8):c.755del (p.Lys252fs)
NM_005629.4(SLC6A8):c.844del (p.Leu282fs) rs2148362786
NM_005629.4(SLC6A8):c.856del (p.Leu286fs)
NM_005629.4(SLC6A8):c.859del (p.Asp287fs)
NM_005629.4(SLC6A8):c.878_879del (p.Leu293fs)
NM_005629.4(SLC6A8):c.913-1G>A
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del) rs2091467532
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005629.4(SLC6A8):c.967_970dup (p.Leu324fs)
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs) rs1060502808
NM_005629.4(SLC6A8):c.980dup (p.Ser329fs) rs2148362976
NM_005629.4(SLC6A8):c.[1429_1430delinsAG];[1429_1596+39del]

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