ClinVar Miner

List of variants in gene SCNN1B reported as uncertain significance for autosomal recessive pseudohypoaldosteronism type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000336.3(SCNN1B):c.*187G>A rs886051816
NM_000336.3(SCNN1B):c.*94G>A rs72654359
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523
NM_000336.3(SCNN1B):c.586-15T>C rs371098444
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291

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.