ClinVar Miner

List of variants in gene SLC6A1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_003042.4(SLC6A1):c.199G>A (p.Val67Ile) rs1479789276 0.00001
NM_003042.4(SLC6A1):c.787G>A (p.Gly263Arg) rs1574906609 0.00001
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile) rs1403165900 0.00001
NC_000003.11:g.(?_11058898)_(11062028_?)del
NC_000003.11:g.(?_11058898)_(11064174_?)del
NC_000003.11:g.(?_11067270)_(11069305_?)del
NC_000003.12:g.11031181dup
NM_003042.3(SLC6A1):c.1328del rs1199489242
NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro) rs749240316
NM_003042.4(SLC6A1):c.1004dup (p.Phe336fs) rs2124926277
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1072del (p.Ala358fs) rs1064796533
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1104C>G (p.Tyr368Ter)
NM_003042.4(SLC6A1):c.1157T>C (p.Phe386Ser)
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter) rs1553690452
NM_003042.4(SLC6A1):c.1192-1G>A rs1697775354
NM_003042.4(SLC6A1):c.1192-2A>G rs1697775287
NM_003042.4(SLC6A1):c.1199C>T (p.Thr400Ile)
NM_003042.4(SLC6A1):c.1222del (p.Leu408fs) rs1574913614
NM_003042.4(SLC6A1):c.1223T>G (p.Leu408Arg) rs2124931871
NM_003042.4(SLC6A1):c.1255del (p.Arg419fs) rs1553690583
NM_003042.4(SLC6A1):c.1308_1311del (p.Ser437fs) rs1553690601
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.1311dup (p.Asn438Ter) rs2124932157
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1323+1G>A rs2124932194
NM_003042.4(SLC6A1):c.1324-2del rs2124936720
NM_003042.4(SLC6A1):c.1335dup (p.Val446fs) rs1574917501
NM_003042.4(SLC6A1):c.1366A>C (p.Ser456Arg) rs1697893468
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys) rs1697893468
NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs) rs876657401
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter) rs745529755
NM_003042.4(SLC6A1):c.148_151del (p.Arg50fs) rs1697194864
NM_003042.4(SLC6A1):c.1495T>C (p.Cys499Arg) rs2124942597
NM_003042.4(SLC6A1):c.1500G>A (p.Trp500Ter) rs1698023156
NM_003042.4(SLC6A1):c.1513C>A (p.Pro505Thr) rs1698023649
NM_003042.4(SLC6A1):c.1528-1G>A
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.1552C>T (p.Gln518Ter)
NM_003042.4(SLC6A1):c.155A>T (p.Asp52Val) rs1697195476
NM_003042.4(SLC6A1):c.156C>G (p.Asp52Glu) rs1697195588
NM_003042.4(SLC6A1):c.158T>C (p.Phe53Ser) rs1697195703
NM_003042.4(SLC6A1):c.1595G>A (p.Trp532Ter) rs1559640454
NM_003042.4(SLC6A1):c.1600C>T (p.Gln534Ter) rs1698067880
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1711del (p.Val571fs) rs1574929097
NM_003042.4(SLC6A1):c.197del (p.Asn66fs) rs1697197599
NM_003042.4(SLC6A1):c.222C>A (p.Cys74Ter) rs139045747
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg) rs1085307804
NM_003042.4(SLC6A1):c.25del (p.Ala9fs) rs1697186082
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=) rs1697221045
NM_003042.4(SLC6A1):c.316C>T (p.Gln106Ter)
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg) rs1559622516
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)
NM_003042.4(SLC6A1):c.336dup (p.Leu113fs) rs1697224249
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
NM_003042.4(SLC6A1):c.370G>A (p.Gly124Ser) rs2124907082
NM_003042.4(SLC6A1):c.373G>A (p.Val125Met) rs1574893965
NM_003042.4(SLC6A1):c.403_423del (p.Trp135_Ile141del) rs2124908675
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter) rs1697263091
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys) rs1697264007
NM_003042.4(SLC6A1):c.434C>T (p.Ser145Phe)
NM_003042.4(SLC6A1):c.449del (p.Tyr150fs) rs2124908824
NM_003042.4(SLC6A1):c.46G>T (p.Glu16Ter)
NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)
NM_003042.4(SLC6A1):c.502del (p.Trp168fs)
NM_003042.4(SLC6A1):c.523_524insA (p.Ser175fs) rs1574897036
NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)
NM_003042.4(SLC6A1):c.566del (p.Val189fs) rs2124912717
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.643_661dup (p.Ala221fs) rs2124917812
NM_003042.4(SLC6A1):c.689G>A (p.Trp230Ter)
NM_003042.4(SLC6A1):c.690G>A (p.Trp230Ter) rs1697443771
NM_003042.4(SLC6A1):c.704G>A (p.Trp235Ter) rs1697444489
NM_003042.4(SLC6A1):c.714+2T>G
NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter) rs1559629701
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser) rs1553689580
NM_003042.4(SLC6A1):c.850-1G>A rs2124924932
NM_003042.4(SLC6A1):c.850-2A>G rs1553689664
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003042.4(SLC6A1):c.89T>A (p.Leu30Ter) rs2124905063
NM_003042.4(SLC6A1):c.914C>T (p.Ala305Val)
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696

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