ClinVar Miner

List of variants in gene SLC6A8 reported as likely pathogenic

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 Xq28(chrX:153688786-153697345)x0
GRCh38/hg38 Xq28(chrX:153688786-153697345)x1
NC_000023.11:g.153694345del rs1603217468
NM_005629.3:c.1488_1899del
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs) rs2148358474
NM_005629.4(SLC6A8):c.1048G>A (p.Gly350Arg) rs2148363200
NM_005629.4(SLC6A8):c.1056CTT[1] (p.Phe354del)
NM_005629.4(SLC6A8):c.1076TCT[1] (p.Phe360del)
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1152_1156dup (p.Phe386fs)
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.1208C>T (p.Ala403Val) rs1557045296
NM_005629.4(SLC6A8):c.1210G>C (p.Ala404Pro)
NM_005629.4(SLC6A8):c.1250G>A (p.Ser417Asn) rs1057520594
NM_005629.4(SLC6A8):c.1252C>A (p.Gln418Lys) rs2148363775
NM_005629.4(SLC6A8):c.1254+1G>A rs1557045333
NM_005629.4(SLC6A8):c.1255-35_1272del rs2091473708
NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs) rs2091474187
NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs)
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.1421A>G (p.Asp474Gly)
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del) rs2091477188
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
NM_005629.4(SLC6A8):c.1592_1639dup (p.Gly533fs)
NM_005629.4(SLC6A8):c.1612_1613dup (p.Asn538fs)
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1681G>C (p.Gly561Arg)
NM_005629.4(SLC6A8):c.1699T>C (p.Ser567Pro)
NM_005629.4(SLC6A8):c.1769G>A (p.Arg590His)
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del) rs2091437670
NM_005629.4(SLC6A8):c.199G>C (p.Gly67Arg) rs1557043855
NM_005629.4(SLC6A8):c.229C>A (p.Arg77Ser)
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.263-3_271del
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) rs2091449037
NM_005629.4(SLC6A8):c.394+2T>G
NM_005629.4(SLC6A8):c.429C>A (p.Tyr143Ter)
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del) rs2091455264
NM_005629.4(SLC6A8):c.507G>A (p.Trp169Ter)
NM_005629.4(SLC6A8):c.527_529del (p.Trp176_Asn177delinsTyr)
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp) rs1557044461
NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg)
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.748_749del (p.Val250fs) rs1557044569
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
NM_005629.4(SLC6A8):c.874T>C (p.Tyr292His) rs2148362804
NM_005629.4(SLC6A8):c.912+2T>G rs2091466607
NM_005629.4(SLC6A8):c.912G>A (p.Gln304=)
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His) rs1064794836
NM_005629.4(SLC6A8):c.916T>C (p.Trp306Arg) rs2091467425
NM_005629.4(SLC6A8):c.918_919del (p.Trp306fs) rs2091467454
NM_005629.4(SLC6A8):c.924T>A (p.Asp308Glu)
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.946dup (p.Ser316fs) rs1569539358
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs) rs2148358457

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