ClinVar Miner

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

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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