Over 380 rare coding variants in the NR3C2 gene affect mineralocorticoid homeostasis and disease susceptibility; these variants include loss-of-function mutations that cause renal pseudohypoaldosteronism type 1 and rarer gain-of-function mutations that can lead to inherited mineralocorticoid hypertension, the best known of which is p.Ser810Leu mutation. This evidence concerns the gene NR3C2 and Renal pseudohypoaldosteronism type 1.