List of variants in gene combination IFT140, LOC105371046 reported as pathogenic for Renal cyst

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)	rs140039128	0.00006
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)	rs1206753537	0.00002
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)	rs762817061	0.00001
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)	rs1166261279
NM_014714.4(IFT140):c.1045del (p.Ala349fs)
NM_014714.4(IFT140):c.1380del (p.Asn460fs)	rs431905522
NM_014714.4(IFT140):c.557G>A (p.Trp186Ter)	rs1567413573
NM_014714.4(IFT140):c.581del (p.Leu194fs)

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.