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	References
c.353C>T	p.Pro118Leu	Mostly homozygotes	rs869025495 (VCV000222762.5)	Turkey	Not found	[1, 11]
c.412C>T	p.Arg138Ter	Homozygotes and compound heterozygotes	rs74315343 (VCV000005361.14)	Israeli Arab	0.0000159 (African 0.0000616)	[25, 26]
c.413G>A	p.Arg138Gln	Homozygotes and compound heterozygotes	rs74315342 (VCV000005360.52)	Western and Central Europe	0.000597 (European 0.00121)	[11]
c.419del	p.Gly140Asp fsTer41	Homozygotes and compound heterozygotes	rs749779208 (VCV000928542.7)	Mediterranean countries such as France, Italy, Turkey, and Cyprus	0.00000796 (European 0.0000176)	[27, 28]
c.538G>A	p.Val180Met	Mostly homozygotes	rs74315347 (VCV000005368.17)	North Africa	0.0000119 (Middle Eastern 0.00316)	[11]
c.596dupA	p.Asn199Lys fsTer14	Mostly homozygotes	Not reported	North Africa (Egypt)	Not found	[29]
c.779 T>A	p.Val260Glu	Mostly homozygotes	rs775006954 (VCV000447882.15)	Comoros, Oman, South Africa	0.0000159 (African 0.000246)	[11, 30]
c.851C>T	p.Ala284Val	Mostly assoc. with p.Arg229Gln (c.686G>A)	rs780761368 (VCV000562398.11)	Spain, Portugal, South America	0.000004 (European 0.00000886)	[21, 31–33]
c.868G>A	p.Val290Met	Mostly compound heterozygotes	rs200482683 (VCV000190610.17)	Central Europe (Poland, Hungary, Germany, and Turkey)	0.000112 (European 0.000221)	[18]
c.1032delT	p.Phe344Leu fsTer3	Mostly assoc. with p.Arg229Gln (c.686G>A)	n.a. (VCV001068472.4)	Kashubs (Poland)	Not found	[23]

Non-Finnish.