List of variants in gene NPHP1 reported as 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)	rs547352656	0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	rs765263671	0.00002
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)

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