ClinVar Miner

List of variants studied for Bartter syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.*175C>G rs4339899 0.46025
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617 0.18512
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
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.715C>T (p.Gln239Ter) rs147394986 0.00071
NM_057176.3(BSND):c.141G>C (p.Gly47=) rs76222905 0.00053
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_057176.3(BSND):c.69G>A (p.Thr23=) rs368632305 0.00032
NM_057176.3(BSND):c.237C>T (p.Gly79=) rs528075528 0.00022
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
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.763G>C (p.Glu255Gln) rs148609746 0.00014
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_057176.3(BSND):c.843G>A (p.Ser281=) rs373929319 0.00009
NM_057176.3(BSND):c.225A>G (p.Pro75=) rs755110588 0.00007
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) rs781101708 0.00006
NM_057176.3(BSND):c.893G>A (p.Gly298Glu) rs180858237 0.00006
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_057176.3(BSND):c.909C>T (p.Ala303=) rs756452755 0.00005
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) rs747229048 0.00004
NM_057176.3(BSND):c.22C>T (p.Arg8Trp) rs74315285 0.00004
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286 0.00004
NM_057176.3(BSND):c.411G>A (p.Gly137=) rs758111009 0.00004
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 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.287C>T (p.Pro96Leu) rs765579274 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_153766.3(KCNJ1):c.155C>T (p.Thr52Met) rs373367600 0.00003
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
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.97G>C (p.Val33Leu) rs754523289 0.00002
NM_057176.3(BSND):c.915C>A (p.Asp305Glu) rs1456638401 0.00001
NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly) rs753949204 0.00001
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)
NM_000338.3(SLC12A1):c.1685-2A>G
NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs)
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)
NM_000338.3(SLC12A1):c.421-1G>A
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.214A>T (p.Ile72Phe) rs1644382614
NM_057176.3(BSND):c.272+1G>T rs1007109925
NM_057176.3(BSND):c.27C>T (p.Ile9=) rs371937424
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) rs74315287
NM_057176.3(BSND):c.393G>A (p.Leu131=) rs201387711
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) rs749600956
NM_057176.3(BSND):c.572C>T (p.Pro191Leu) rs1184835309
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)

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.