The registry of Hereditary Auto-inflammatory Disorders Mutations

  • Population Frequencies (GnomAD v2.1.1 via Annovar) added
  • Eurofever phenotypes (as from Papa et al, 2017) now available
  • Last gene(s) added: POMP
  • Send us your re-evaluation proposal for variant pathogenicity scores here
  • Send us your variants in batch. Fill in the file and send it to the webmaster
Chief Editor: Isabelle Touitou
Editorial Board
Editorial Board