ClinVar Miner

List of variants in gene BSND reported as benign for Bartter disease type 4a

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_057176.3(BSND):c.*24A>C rs6682884
NM_057176.3(BSND):c.*94A>G rs80300625
NM_057176.3(BSND):c.-117T>C rs2500340
NM_057176.3(BSND):c.-156G>C rs183925883
NM_057176.3(BSND):c.-241G>A rs12069526
NM_057176.3(BSND):c.-25C>T rs188418228
NM_057176.3(BSND):c.-70C>G rs2500341
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376
NM_057176.3(BSND):c.177+11G>A rs78904893
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617

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.