ClinVar Miner

List of variants reported as pathogenic for Focal segmental glomerulosclerosis by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)	rs74315343	0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)	rs121907909	0.00001
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	rs749740335

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