ClinVar Miner

List of variants in gene SLC6A1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 79
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HGVS dbSNP gnomAD frequency
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.1787A>G (p.Glu596Gly) rs142428144 0.00002
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn) rs751108300 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.1000G>T (p.Ala334Ser) rs749240316
NM_003042.4(SLC6A1):c.1039C>T (p.His347Tyr)
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met) rs1697630365
NM_003042.4(SLC6A1):c.1139T>A (p.Leu380His)
NM_003042.4(SLC6A1):c.1219_1235del (p.Ala407fs) rs1559634108
NM_003042.4(SLC6A1):c.1243C>T (p.Leu415Phe)
NM_003042.4(SLC6A1):c.1291T>C (p.Ser431Pro) rs1553690597
NM_003042.4(SLC6A1):c.1303G>A (p.Gly435Ser)
NM_003042.4(SLC6A1):c.1328G>T (p.Gly443Val) rs1697891755
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.1399G>A (p.Glu467Lys)
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.1496G>A (p.Cys499Tyr) rs1574922621
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
NM_003042.4(SLC6A1):c.153C>T (p.Phe51=)
NM_003042.4(SLC6A1):c.1540T>C (p.Phe514Leu)
NM_003042.4(SLC6A1):c.154G>A (p.Asp52Asn)
NM_003042.4(SLC6A1):c.164T>C (p.Met55Thr) rs2124905468
NM_003042.4(SLC6A1):c.1697G>A (p.Arg566His) rs767142926
NM_003042.4(SLC6A1):c.1717C>T (p.Pro573Ser) rs760120415
NM_003042.4(SLC6A1):c.1727A>C (p.Asp576Ala) rs1698164249
NM_003042.4(SLC6A1):c.1732G>C (p.Val578Leu) rs369359690
NM_003042.4(SLC6A1):c.1778C>T (p.Thr593Ile) rs2124949429
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.242C>A (p.Ala81Asp) rs2124906663
NM_003042.4(SLC6A1):c.256T>A (p.Tyr86Asn) rs2124906690
NM_003042.4(SLC6A1):c.266C>T (p.Thr89Ile)
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.314G>T (p.Gly105Val) rs1697222986
NM_003042.4(SLC6A1):c.322A>G (p.Thr108Ala) rs1574892400
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.431T>A (p.Ile144Asn) rs2124908788
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys) rs2124908813
NM_003042.4(SLC6A1):c.442A>T (p.Ile148Phe)
NM_003042.4(SLC6A1):c.464T>A (p.Phe155Tyr) rs2124908847
NM_003042.4(SLC6A1):c.472-11T>A rs2124912328
NM_003042.4(SLC6A1):c.479C>G (p.Pro160Arg)
NM_003042.4(SLC6A1):c.498C>G (p.Asn166Lys)
NM_003042.4(SLC6A1):c.544A>G (p.Thr182Ala)
NM_003042.4(SLC6A1):c.596A>G (p.Gln199Arg) rs1559626654
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.668T>A (p.Ile223Asn)
NM_003042.4(SLC6A1):c.722A>G (p.Tyr241Cys) rs1470279375
NM_003042.4(SLC6A1):c.724T>G (p.Phe242Val)
NM_003042.4(SLC6A1):c.740C>G (p.Pro247Arg) rs1057524158
NM_003042.4(SLC6A1):c.74A>T (p.Asp25Val)
NM_003042.4(SLC6A1):c.791C>T (p.Ala264Val)
NM_003042.4(SLC6A1):c.823A>C (p.Asn275His) rs2124924424
NM_003042.4(SLC6A1):c.850-3T>G
NM_003042.4(SLC6A1):c.866C>A (p.Ala289Glu)
NM_003042.4(SLC6A1):c.885A>G (p.Ser295=) rs563719346
NM_003042.4(SLC6A1):c.940A>G (p.Asn314Asp) rs2124925235
NM_003042.4(SLC6A1):c.952A>G (p.Arg318Gly) rs1697602793
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)
NM_003042.4(SLC6A1):c.99G>C (p.Lys33Asn) rs767066259

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