ClinVar Miner

List of variants studied for Bartter syndrome by Mendelics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile) rs138110172 0.00332
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter) rs370221310 0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905 0.00006
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024 0.00004
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) rs747229048 0.00004
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) rs1570340095
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) rs1570341086
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) rs1570334344
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304

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.