List of variants in gene NPHP1 reported as likely pathogenic for Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.771+169G>T	rs150520157	0.00027
NM_001128178.3(NPHP1):c.729-2A>G	rs773781058	0.00002
NM_001128178.3(NPHP1):c.143+1G>C	rs745806504	0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)	rs1311042980	0.00001
NM_001128178.3(NPHP1):c.329+1G>A	rs376974221	0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)	rs1349732291	0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)	rs753517219	0.00001
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)	rs1410236296

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