List of variants in gene INVS reported as likely pathogenic for Infantile nephronophthisis

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)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)	rs149055711	0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)	rs755288504	0.00001
NM_014425.5(INVS):c.2786+1G>A	rs935629850	0.00001
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)	rs777723411
NM_014425.5(INVS):c.2786+2T>C	rs1322951938
NM_014425.5(INVS):c.2949dup (p.Lys984fs)	rs1588153872
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
NM_014425.5(INVS):c.497_512dup (p.His171fs)	rs779545419
NM_014425.5(INVS):c.778C>T (p.His260Tyr)
NM_014425.5(INVS):c.875C>T (p.Pro292Leu)	rs1831916010

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.