Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin
Table 1
Pathogenic NPHS2 variants characterized by the locally increased frequencies.
cDNA (NM_014625.4)
Protein
Genotypes
Rs ID (ClinVar)
Population with the increased frequency
Variant’s worldwide frequency in gnomAD exomes 2.1.1