ClinVar Miner

List of variants reported as pathogenic for Infantile nephronophthisis by Molecular Biology Laboratory, Fundació Puigvert

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)	rs200844390	0.00009
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)	rs149055711	0.00001

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