ClinVar Miner

List of variants reported as pathogenic for Nephronophthisis 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs)	rs1553484094
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)	rs766524637

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