ClinVar Miner

List of variants reported as likely benign for Bartter syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000220.5(KCNJ1):c.*16G>A rs3181542
NM_000220.5(KCNJ1):c.*507C>T rs142091896
NM_000220.5(KCNJ1):c.*88G>A rs117795695
NM_000220.5(KCNJ1):c.625C>T (p.Leu209Phe) rs188249669
NM_000220.5(KCNJ1):c.849G>A (p.Ala283=) rs567888166
NM_000338.3(SLC12A1):c.*862A>G
NM_000338.3(SLC12A1):c.-68G>T
NM_000338.3(SLC12A1):c.1216-13T>A
NM_000338.3(SLC12A1):c.1300+12G>A
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738
NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=) rs150609105
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) rs145464740
NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser) rs372350814
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316
NM_000338.3(SLC12A1):c.59G>A (p.Arg20His)
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) rs188295259
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602
NM_153767.4(KCNJ1):c.*801C>T

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.