Table 3

Demographics of reported individuals with the c.278_289delTCTGCCCCGAAG insCCGCCTCCT UMOD variant in various cohorts

StudyPedigrees (n)Individuals (n)Reference
Sheffield and Nottingham1288This study
100K (GEL)1220This study
UKBB99This study
Cambridge53537
Southampton448
Cardiff (Cologne)2735 36
Wake Forest Registry, USA11747 19
  • GEL, Genomics England Limited; 100K, 100,000 Genomes Project; UKBB, UK Biobank; UMOD, uromodulin.