ClinVar Miner

List of variants in gene SLC6A8 reported as pathogenic by Invitae

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Gene type:
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Total variants: 43
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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.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.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.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.1393-12_1395del rs2148364124
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter) rs1239466041
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) rs1569539443
NM_005629.4(SLC6A8):c.1487G>A (p.Trp496Ter)
NM_005629.4(SLC6A8):c.1496-1_1510del rs2148364395
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1551del (p.Trp518fs) rs2148364489
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.263-2A>G rs1569539244
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
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.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.945_949del (p.Phe315fs) rs1603216806
NM_005629.4(SLC6A8):c.967_970dup (p.Leu324fs)
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs) rs1060502808

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