ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000901.5(NR3C2):c.1004del (p.Ser335fs)
NM_000901.5(NR3C2):c.1131dup (p.Glu378Ter) rs1560735659
NM_000901.5(NR3C2):c.1308T>A (p.Cys436Ter) rs121912570
NM_000901.5(NR3C2):c.1375del (p.Ser459fs)
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_000901.5(NR3C2):c.1819delinsTT (p.Gly607fs) rs2149871751
NM_000901.5(NR3C2):c.1897G>A (p.Gly633Arg) rs121912566
NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter) rs121912564
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) rs1131691921
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter) rs121912572
NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter)
NM_000901.5(NR3C2):c.2327A>G (p.Gln776Arg) rs121912565
NM_000901.5(NR3C2):c.2365+3del rs1560949756
NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu) rs121912573
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro) rs121912563
NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter) rs121912569
NM_000901.5(NR3C2):c.2871dup (p.Ala958fs) rs1560910156
NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly) rs121912574
NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro) rs121912567
NM_000901.5(NR3C2):c.315_322del (p.Met105fs)
NM_000901.5(NR3C2):c.488C>G (p.Ser163Ter) rs121912568

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.