Table 2.

Six novel variants in known SRNS genes identified by targeted sequencing of custom amplicons.

Family	Race	Country	Gene	Protein change	Inheritance	Age at onset (yr)	Renal biopsy	Diagnosis
6,511	White	USA	WT1	p.T416A	AD	31–35	FSGS	SRNS
6,586	White	USA	WT1	p.C393Y	AD	46–50	FSGS	SRNS
6,725	White	USA	NPHS2	p.Y162X	Sporadic	1–5	FSGS	SRNS
34,262	White	USA	ACTN4	p.D874N	Sporadic	6–10	FSGS	SRNS
34,462	Black	USA	INF2	p.E249X	AD	6–10	FSGS	SRNS
40,015	Hispanic	USA	TRPC6	p.G39fsX41	Sporadic	6–10	MCD	SRNS

AD, autosomal dominant; FSGS, focal segmental glomerulosclerosis; MCD, minimal change disease; SRNS, steroid-resistant nephrotic syndrome.