ClinVar Miner

List of variants in gene SLC12A5 reported as pathogenic for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000020.11:g.(?_46021746)_(46057625_?)del
NC_000020.11:g.(?_46045858)_(46046456_?)del
NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) rs1600590580
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1287del (p.Lys429fs)
NM_020708.5(SLC12A5):c.1492dup (p.Ala498fs) rs2145493702
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.1787G>A (p.Trp596Ter)
NM_020708.5(SLC12A5):c.1845G>A (p.Trp615Ter) rs2145496676
NM_020708.5(SLC12A5):c.1888A>T (p.Lys630Ter) rs2145496726
NM_020708.5(SLC12A5):c.1936C>T (p.Arg646Ter)
NM_020708.5(SLC12A5):c.2017C>T (p.Gln673Ter)
NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) rs2084648529
NM_020708.5(SLC12A5):c.2297del (p.Leu766fs)
NM_020708.5(SLC12A5):c.2301_2302del (p.His768fs) rs2145502127
NM_020708.5(SLC12A5):c.2490G>A (p.Trp830Ter) rs2145503665
NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) rs2084424489
NM_020708.5(SLC12A5):c.2519del (p.Leu840fs) rs2145503701
NM_020708.5(SLC12A5):c.266del (p.Lys89fs) rs2084489672
NM_020708.5(SLC12A5):c.2708_2709del (p.Thr902_Tyr903insTer)
NM_020708.5(SLC12A5):c.2894_2898del (p.Glu965fs) rs2145507682
NM_020708.5(SLC12A5):c.3159_3180del (p.Ala1053_Val1054insTer)
NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) rs2084424722
NM_020708.5(SLC12A5):c.531_532insT (p.Gly178fs) rs2145484584
NM_020708.5(SLC12A5):c.710_711del (p.Val237fs) rs1555863145
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) rs863225306
NM_020708.5(SLC12A5):c.962del (p.Phe321fs)
NM_020708.5(SLC12A5):c.966C>A (p.Cys322Ter)
NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) rs1555863593

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.