ClinVar Miner

List of variants in gene SLC6A1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1528-305T>C rs10514669 0.81031
NM_003042.4(SLC6A1):c.1427-311C>T rs2675163 0.79262
NM_003042.4(SLC6A1):c.1527+78T>C rs2246543 0.64208
NM_003042.4(SLC6A1):c.370+187G>A rs2928078 0.61317
NM_003042.4(SLC6A1):c.371-288A>G rs1728803 0.53125
NM_003042.4(SLC6A1):c.471+289G>C rs2928077 0.51013
NM_003042.4(SLC6A1):c.-204G>A rs6342 0.46868
NM_003042.4(SLC6A1):c.1426+284G>A rs2272403 0.27358
NM_003042.4(SLC6A1):c.1696-175G>A rs2697134 0.12707
NM_003042.4(SLC6A1):c.1528-227T>C rs62238224 0.10222
NM_003042.4(SLC6A1):c.-153-243T>C rs11923810 0.09206
NM_003042.4(SLC6A1):c.471+46G>C rs3817585 0.06874
NM_003042.4(SLC6A1):c.1323+206A>G rs77090275 0.06141
NM_003042.4(SLC6A1):c.1079-230G>A rs74593859 0.03640
NM_003042.4(SLC6A1):c.715-295A>C rs41323844 0.03415
NM_003042.4(SLC6A1):c.715-78C>T rs41335049 0.03408
NM_003042.4(SLC6A1):c.1192-37G>A rs36034065 0.03179
NM_003042.4(SLC6A1):c.1527+320G>T rs3817584 0.02885
NM_003042.4(SLC6A1):c.1427-141C>T rs78313301 0.02754
NM_003042.4(SLC6A1):c.582-159G>A rs3856787 0.02443
NM_003042.4(SLC6A1):c.715-293A>C rs41480248 0.02138
NM_003042.4(SLC6A1):c.1528-318T>C rs114357666 0.02058
NM_003042.4(SLC6A1):c.780G>A (p.Thr260=) rs33948309 0.02040
NM_003042.4(SLC6A1):c.1192-43G>T rs6770472 0.01939
NM_003042.4(SLC6A1):c.849+72G>A rs17532365 0.01868
NM_003042.4(SLC6A1):c.370+301C>T rs7643585 0.01665
NM_003042.4(SLC6A1):c.-153-81C>T rs41388950 0.01637
NM_003042.4(SLC6A1):c.1323+210A>T rs186627467 0.01138
NM_003042.4(SLC6A1):c.1192-98G>A rs113092916 0.01028
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=) rs35513423 0.01020
NM_003042.4(SLC6A1):c.1527+36G>A rs2272402 0.00950
NM_003042.4(SLC6A1):c.535A>G (p.Met179Val) rs34299874 0.00894
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=) rs35972647 0.00702
NM_003042.4(SLC6A1):c.1192-30C>T rs36034461 0.00610
NM_003042.4(SLC6A1):c.1527+96G>A rs147852499 0.00522
NM_003042.4(SLC6A1):c.138G>A (p.Thr46=) rs183069336 0.00475
NM_003042.4(SLC6A1):c.471+67C>T rs150874351 0.00426
NM_003042.4(SLC6A1):c.-153-284A>G rs150344082 0.00425
NM_003042.4(SLC6A1):c.472-85T>C rs41478447 0.00414
NM_003042.4(SLC6A1):c.-153-168C>G rs60430370 0.00382
NM_003042.4(SLC6A1):c.581+33C>T rs75945525 0.00347
NM_003042.4(SLC6A1):c.371-94C>T rs189042825 0.00337
NM_003042.4(SLC6A1):c.472-170T>C rs185995078 0.00279
NM_003042.4(SLC6A1):c.-17C>T rs41362845 0.00252
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949 0.00159
NM_003042.4(SLC6A1):c.471+6T>C rs142579600 0.00151
NM_003042.4(SLC6A1):c.1647C>T (p.Pro549=) rs2272401 0.00138
NM_003042.4(SLC6A1):c.953+21G>T rs35736058 0.00111
NM_003042.4(SLC6A1):c.411C>T (p.Asn137=) rs148429200 0.00103
NM_003042.4(SLC6A1):c.715-8C>T rs41537851 0.00093
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=) rs150519659 0.00058
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=) rs139315755 0.00053
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=) rs6343 0.00032
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=) rs34969656 0.00027
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003042.4(SLC6A1):c.-5G>A rs200451145 0.00024
NM_003042.4(SLC6A1):c.1044C>T (p.Val348=) rs144666962 0.00021
NM_003042.4(SLC6A1):c.1092G>A (p.Ala364=) rs199998696 0.00014
NM_003042.4(SLC6A1):c.616A>G (p.Lys206Glu) rs375623402 0.00012
NM_003042.4(SLC6A1):c.837G>C (p.Leu279=) rs141874821 0.00010
NM_003042.4(SLC6A1):c.1071G>A (p.Ala357=) rs1139553 0.00008
NM_003042.4(SLC6A1):c.1335T>C (p.Tyr445=) rs758040188 0.00007
NM_003042.4(SLC6A1):c.891G>A (p.Gly297=) rs151039956 0.00006
NM_003042.4(SLC6A1):c.1213A>G (p.Ile405Val) rs759515813 0.00005
NM_003042.4(SLC6A1):c.381T>C (p.Leu127=) rs753023286 0.00005
NM_003042.4(SLC6A1):c.45C>T (p.Thr15=) rs761463345 0.00004
NM_003042.4(SLC6A1):c.492C>T (p.Cys164=) rs151263329 0.00004
NM_003042.4(SLC6A1):c.885A>T (p.Ser295=) rs563719346 0.00004
NM_003042.4(SLC6A1):c.371-21G>A rs376278606 0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=) rs372085480 0.00003
NM_003042.4(SLC6A1):c.779C>T (p.Thr260Met) rs777446246 0.00003
NM_003042.4(SLC6A1):c.966C>T (p.Ile322=) rs757627416 0.00003
NM_003042.4(SLC6A1):c.1738C>T (p.Pro580Ser) rs747243516 0.00002
NM_003042.4(SLC6A1):c.1787A>G (p.Glu596Gly) rs142428144 0.00002
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=) rs138166453 0.00002
NM_003042.4(SLC6A1):c.114G>A (p.Ala38=) rs139224269 0.00001
NM_003042.4(SLC6A1):c.328A>G (p.Ile110Val) rs1270312556 0.00001
NM_003042.4(SLC6A1):c.55G>A (p.Glu19Lys) rs1490096672 0.00001
NM_003042.4(SLC6A1):c.787G>A (p.Gly263Arg) rs1574906609 0.00001
NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe) rs1271404941 0.00001
NM_003042.4(SLC6A1):c.-153-65G>C rs11919775
NM_003042.4(SLC6A1):c.1000G>T (p.Ala334Ser) rs749240316
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met) rs1697630365
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1072del (p.Ala358fs) rs1064796533
NM_003042.4(SLC6A1):c.1079-231C>G rs75682814
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.1191+16_1191+17dup rs3841958
NM_003042.4(SLC6A1):c.1191+17del rs3841958
NM_003042.4(SLC6A1):c.1191+17dup rs3841958
NM_003042.4(SLC6A1):c.1222del (p.Leu408fs) rs1574913614
NM_003042.4(SLC6A1):c.1303G>A (p.Gly435Ser)
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.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
NM_003042.4(SLC6A1):c.1334A>G (p.Tyr445Cys) rs2124936763
NM_003042.4(SLC6A1):c.1358A>G (p.Tyr453Cys) rs2124936839
NM_003042.4(SLC6A1):c.1370G>C (p.Gly457Ala)
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.137C>T (p.Thr46Met) rs762550927
NM_003042.4(SLC6A1):c.1388T>C (p.Leu463Pro)
NM_003042.4(SLC6A1):c.1399G>A (p.Glu467Lys)
NM_003042.4(SLC6A1):c.1427-1G>T rs1553691674
NM_003042.4(SLC6A1):c.1427-9A>G rs1698019472
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter) rs745529755
NM_003042.4(SLC6A1):c.1486T>C (p.Trp496Arg) rs2124942564
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys) rs754493263
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
NM_003042.4(SLC6A1):c.1528-27CCCTC[2] rs767474061
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.1540T>C (p.Phe514Leu)
NM_003042.4(SLC6A1):c.154G>A (p.Asp52Asn)
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.164T>C (p.Met55Thr) rs2124905468
NM_003042.4(SLC6A1):c.1679dup (p.Ser562fs)
NM_003042.4(SLC6A1):c.1717C>T (p.Pro573Ser) rs760120415
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.187G>C (p.Gly63Arg) rs1057523845
NM_003042.4(SLC6A1):c.196A>G (p.Asn66Asp) rs1064795392
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.236G>T (p.Gly79Val) rs1553687907
NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp) rs2124906663
NM_003042.4(SLC6A1):c.256T>A (p.Tyr86Asn) rs2124906690
NM_003042.4(SLC6A1):c.268C>T (p.Leu90Phe) rs2124906730
NM_003042.4(SLC6A1):c.274T>A (p.Phe92Ile) rs2124906768
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.332G>A (p.Gly111Glu) rs1574892457
NM_003042.4(SLC6A1):c.397T>C (p.Ser133Pro)
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.418T>C (p.Tyr140His) rs2124908740
NM_003042.4(SLC6A1):c.431T>A (p.Ile144Asn) rs2124908788
NM_003042.4(SLC6A1):c.442A>T (p.Ile148Phe)
NM_003042.4(SLC6A1):c.471+238C>G rs2933307
NM_003042.4(SLC6A1):c.471+287C>T rs9827626
NM_003042.4(SLC6A1):c.472-11T>A rs2124912328
NM_003042.4(SLC6A1):c.479C>G (p.Pro160Arg)
NM_003042.4(SLC6A1):c.509_510del (p.Thr170fs) rs1064795662
NM_003042.4(SLC6A1):c.544A>G (p.Thr182Ala)
NM_003042.4(SLC6A1):c.581+54C>T rs3774070
NM_003042.4(SLC6A1):c.5C>A (p.Ala2Glu) rs913073947
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
NM_003042.4(SLC6A1):c.625C>A (p.Gln209Lys) rs1057524500
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.651G>T (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.715-259A>T rs9822125
NM_003042.4(SLC6A1):c.722A>G (p.Tyr241Cys) rs1470279375
NM_003042.4(SLC6A1):c.740C>G (p.Pro247Arg) rs1057524158
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu) rs1057524158
NM_003042.4(SLC6A1):c.74A>T (p.Asp25Val)
NM_003042.4(SLC6A1):c.823A>C (p.Asn275His) rs2124924424
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.866C>A (p.Ala289Glu)
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.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.953G>A (p.Arg318Lys) rs2124925299
NM_003042.4(SLC6A1):c.956A>T (p.Asp319Val) rs2124926088
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_003042.4(SLC6A1):c.996G>A (p.Met332Ile) rs1320853236
NM_003042.4(SLC6A1):c.998T>C (p.Phe333Ser)

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