ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant pseudohypoaldosteronism type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000004.11:g.(?_149081621)_(151082561_?)del
NM_000901.5(NR3C2):c.102del (p.Glu35fs) rs2126657667
NM_000901.5(NR3C2):c.1350del (p.Pro451fs)
NM_000901.5(NR3C2):c.1799C>A (p.Ser600Ter) rs2149871784
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_000901.5(NR3C2):c.2096del (p.Pro699fs) rs748573472
NM_000901.5(NR3C2):c.2657T>A (p.Leu886His)
NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg) rs1560928649
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter) rs1553986377
NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter) rs1553986374
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) rs1553535841

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.