ClinVar Miner

List of variants reported as pathogenic for Nephrotic syndrome, type 3 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter)	rs121912601	0.00001
NM_016341.4(PLCE1):c.4477C>T (p.Gln1493Ter)	rs2051691492

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