List of variants in gene BSND reported as likely benign for Bartter syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_057176.3(BSND):c.459C>T (p.Asp153=)	rs138974602	0.00328
NM_057176.3(BSND):c.189C>T (p.Val63=)	rs144505461	0.00125
NM_057176.3(BSND):c.177+15G>C	rs193020037	0.00108
NM_057176.3(BSND):c.527G>A (p.Arg176His)	rs143711308	0.00092
NM_057176.3(BSND):c.63C>T (p.Leu21=)	rs141611486	0.00079
NM_057176.3(BSND):c.309G>C (p.Glu103Asp)	rs200246335	0.00034
NM_057176.3(BSND):c.237C>T (p.Gly79=)	rs528075528	0.00022
NM_057176.3(BSND):c.548+10T>C	rs369882063	0.00020
NM_057176.3(BSND):c.9C>T (p.Asp3=)	rs141111550	0.00016
NM_057176.3(BSND):c.102C>T (p.Tyr34=)	rs141403253	0.00014
NM_057176.3(BSND):c.282C>T (p.Pro94=)	rs776609285	0.00014
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)	rs201342416	0.00013
NM_057176.3(BSND):c.831G>A (p.Glu277=)	rs143916830	0.00011
NM_057176.3(BSND):c.225A>G (p.Pro75=)	rs755110588	0.00007
NM_057176.3(BSND):c.893G>A (p.Gly298Glu)	rs180858237	0.00006
NM_057176.3(BSND):c.909C>T (p.Ala303=)	rs756452755	0.00005
NM_057176.3(BSND):c.411G>A (p.Gly137=)	rs758111009	0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=)	rs754819005	0.00004
NM_057176.3(BSND):c.126C>T (p.Ser42=)	rs138152773	0.00003
NM_057176.3(BSND):c.216C>A (p.Ile72=)	rs755897497	0.00003
NM_057176.3(BSND):c.547G>A (p.Gly183Ser)	rs750027126	0.00003
NM_057176.3(BSND):c.696G>A (p.Arg232=)	rs886046424	0.00003
NM_057176.3(BSND):c.417G>A (p.Pro139=)	rs776717215	0.00002
NM_057176.3(BSND):c.546C>T (p.Pro182=)	rs375551000	0.00002
NM_057176.3(BSND):c.183C>T (p.Thr61=)	rs377452238	0.00001
NM_057176.3(BSND):c.288G>A (p.Pro96=)	rs752911029	0.00001
NM_057176.3(BSND):c.501C>T (p.Gly167=)	rs1463073048	0.00001
NM_057176.3(BSND):c.393G>A (p.Leu131=)	rs201387711
NM_057176.3(BSND):c.810C>T (p.Tyr270=)	rs1451582678

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.