In regard to the available clinical information in human mutation databases, 4 out of the 5 missense variants with MAF > 0.05 in healthy population are considered non-pathogenic polymorphisms (CERC1 p.His335Arg, MEFV p.Arg202Gln, MVK p.Ser52Asn and NOD2 p.Pro268Ser), whereas one is considered associated to FMF (MEFV p.Glu148Gln). Here, MEFV is linked to familial Mediterranean fever.