ClinVar Miner

List of variants in gene SLC6A1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.471+67C>T rs150874351 0.00426
NM_003042.4(SLC6A1):c.1192-24G>T rs150889270 0.00383
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.411C>T (p.Asn137=) rs148429200 0.00103
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.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.480G>T (p.Pro160=) rs116620331 0.00021
NM_003042.4(SLC6A1):c.1008C>T (p.Phe336=) rs144261418 0.00009
NM_003042.4(SLC6A1):c.891G>A (p.Gly297=) rs151039956 0.00006
NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=) rs201643896 0.00004
NM_003042.4(SLC6A1):c.384G>A (p.Ala128=) rs2272404 0.00004
NM_003042.4(SLC6A1):c.582-7T>G rs201191000 0.00004
NM_003042.4(SLC6A1):c.660C>T (p.Ile220=) rs760984163 0.00003
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=) rs138166453 0.00002
NM_003042.4(SLC6A1):c.1083C>T (p.Pro361=) rs768964697 0.00001
NM_003042.4(SLC6A1):c.1383G>C (p.Leu461=) rs1160002015 0.00001
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn) rs751108300 0.00001
NM_003042.4(SLC6A1):c.798G>A (p.Glu266=) rs1211147356 0.00001
NM_003042.4(SLC6A1):c.828C>T (p.Phe276=) rs1176975543 0.00001
NM_003042.3(SLC6A1):c.1328del rs1199489242
NM_003042.4(SLC6A1):c.*590G>C
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.1039C>T (p.His347Tyr)
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1081_1082delinsGT (p.Pro361Val)
NM_003042.4(SLC6A1):c.1113G>A (p.Ala371=)
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter) rs1553690452
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.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr) rs1574922621
NM_003042.4(SLC6A1):c.1560G>T (p.Thr520=)
NM_003042.4(SLC6A1):c.1563A>G (p.Pro521=)
NM_003042.4(SLC6A1):c.1697G>A (p.Arg566His) rs767142926
NM_003042.4(SLC6A1):c.1727A>C (p.Asp576Ala) rs1698164249
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.201C>T (p.Val67=) rs1574891179
NM_003042.4(SLC6A1):c.238+1G>T rs1574891285
NM_003042.4(SLC6A1):c.266C>T (p.Thr89Ile)
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.438G>T (p.Trp146Cys) rs2124908813
NM_003042.4(SLC6A1):c.464T>A (p.Phe155Tyr) rs2124908847
NM_003042.4(SLC6A1):c.471+78C>G
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn) rs748779390
NM_003042.4(SLC6A1):c.498C>G (p.Asn166Lys)
NM_003042.4(SLC6A1):c.595C>T (p.Gln199Ter) rs1559626646
NM_003042.4(SLC6A1):c.596A>G (p.Gln199Arg) rs1559626654
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met) rs1396036517
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.660C>A (p.Ile220=) rs760984163
NM_003042.4(SLC6A1):c.668T>A (p.Ile223Asn)
NM_003042.4(SLC6A1):c.673G>C (p.Val225Leu) rs2124917929
NM_003042.4(SLC6A1):c.724T>G (p.Phe242Val)
NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter) rs1559629701
NM_003042.4(SLC6A1):c.791C>T (p.Ala264Val)
NM_003042.4(SLC6A1):c.850-3T>G
NM_003042.4(SLC6A1):c.864G>C (p.Ala288=)
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.99G>C (p.Lys33Asn) rs767066259

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.