ClinVar Miner

List of variants in gene NPHP1 reported as likely pathogenic for Nephronophthisis 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.361_362dup (p.Ser121fs)	rs2467405206
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter)	rs2104548702

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