ClinVar Miner

List of variants in gene SLC6A1 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg) rs1697439559 0.00001
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr) rs749240316
NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe) rs2124926302
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.1070C>A (p.Ala357Glu) rs1553689859
NM_003042.4(SLC6A1):c.1078+1G>C
NM_003042.4(SLC6A1):c.1081_1082delinsGT (p.Pro361Val)
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1087delinsGT (p.Leu363fs) rs1553690421
NM_003042.4(SLC6A1):c.1096C>G (p.Leu366Val) rs1410013974
NM_003042.4(SLC6A1):c.1099G>A (p.Ala367Thr) rs1697748409
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del) rs2124930894
NM_003042.4(SLC6A1):c.1177G>A (p.Gly393Ser) rs1559633512
NM_003042.4(SLC6A1):c.1188C>A (p.Ser396Arg)
NM_003042.4(SLC6A1):c.1191+1G>A rs2124930966
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
NM_003042.4(SLC6A1):c.1328G>A (p.Gly443Asp) rs1697891755
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1388T>C (p.Leu463Pro)
NM_003042.4(SLC6A1):c.1427-1G>A rs1553691674
NM_003042.4(SLC6A1):c.1427-1G>T rs1553691674
NM_003042.4(SLC6A1):c.1427-9A>G rs1698019472
NM_003042.4(SLC6A1):c.1459A>G (p.Met487Val)
NM_003042.4(SLC6A1):c.1460T>C (p.Met487Thr) rs1559639240
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_003042.4(SLC6A1):c.1527+1G>A
NM_003042.4(SLC6A1):c.1528-1G>C rs1574924801
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
NM_003042.4(SLC6A1):c.1580_1581del (p.Tyr527fs)
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1648G>C (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1679dup (p.Ser562fs)
NM_003042.4(SLC6A1):c.167C>T (p.Ser56Phe) rs1574891108
NM_003042.4(SLC6A1):c.1695+1G>A
NM_003042.4(SLC6A1):c.179A>C (p.Tyr60Ser) rs2124905507
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.194G>A (p.Gly65Asp) rs1697197329
NM_003042.4(SLC6A1):c.196A>G (p.Asn66Asp) rs1064795392
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.223G>C (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu) rs2124905654
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys) rs2124905696
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg) rs1085307804
NM_003042.4(SLC6A1):c.236G>T (p.Gly79Val) rs1553687907
NM_003042.4(SLC6A1):c.238+1G>T rs1574891285
NM_003042.4(SLC6A1):c.256T>C (p.Tyr86His)
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=) rs1697221045
NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu) rs1553688015
NM_003042.4(SLC6A1):c.313G>A (p.Gly105Ser) rs144322561
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg) rs1064795290
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg) rs1559622516
NM_003042.4(SLC6A1):c.362del (p.Met121fs)
NM_003042.4(SLC6A1):c.370+2T>C
NM_003042.4(SLC6A1):c.370+2del rs2124907093
NM_003042.4(SLC6A1):c.418T>C (p.Tyr140His) rs2124908740
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys) rs1697264007
NM_003042.4(SLC6A1):c.471+1G>T rs1559623389
NM_003042.4(SLC6A1):c.472-1G>C rs1697337518
NM_003042.4(SLC6A1):c.509_510del (p.Thr170fs) rs1064795662
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
NM_003042.4(SLC6A1):c.581+1G>C
NM_003042.4(SLC6A1):c.593A>C (p.His198Pro)
NM_003042.4(SLC6A1):c.595C>T (p.Gln199Ter) rs1559626646
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met) rs1396036517
NM_003042.4(SLC6A1):c.673G>C (p.Val225Leu) rs2124917929
NM_003042.4(SLC6A1):c.684_689del (p.Cys228_Ile229del)
NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val) rs1697444014
NM_003042.4(SLC6A1):c.695_696delinsTG (p.Gly232Val)
NM_003042.4(SLC6A1):c.715-1G>C
NM_003042.4(SLC6A1):c.738C>G (p.Tyr246Ter) rs1559629701
NM_003042.4(SLC6A1):c.739C>T (p.Pro247Ser)
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu) rs1057524158
NM_003042.4(SLC6A1):c.757del (p.Ile253fs)
NM_003042.4(SLC6A1):c.801del (p.Ile268fs) rs1574906665
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro) rs2124924369
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser) rs1553689580
NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro) rs2124924511
NM_003042.4(SLC6A1):c.838_841del (p.Ser280fs) rs2124924504
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003042.4(SLC6A1):c.862G>A (p.Ala288Thr) rs2124924976
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter) rs1064795098
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003042.4(SLC6A1):c.896G>T (p.Gly299Val)
NM_003042.4(SLC6A1):c.901_909del (p.Gly301_Leu303del)
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003042.4(SLC6A1):c.929A>C (p.Asn310Thr) rs896013015
NM_003042.4(SLC6A1):c.991A>G (p.Ser331Gly) rs2124926212

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