List of variants in gene CTNS reported as likely pathogenic for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	rs113994207	0.00004
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_004937.3(CTNS):c.61+2T>C	rs767289120	0.00001
NM_004937.3(CTNS):c.236del (p.Pro79fs)
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)	rs376042415
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)	rs2076100759
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	rs1436441738
NM_004937.3(CTNS):c.587dup (p.Asn196fs)	rs1597654857
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)
NM_004937.3(CTNS):c.682-1G>T	rs1057516771
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)	rs1463026342

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.