List of variants in gene CTNS reported as likely pathogenic by Invitae

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.61+2T>C	rs767289120	0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	rs768600603	0.00001
NM_004937.3(CTNS):c.141-1G>A	rs2075906916
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
NM_004937.3(CTNS):c.225+5_225+8del	rs1555561048
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)	rs121908126
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	rs764168489
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)	rs2150922764
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.61+1G>T	rs1555558116
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)	rs2150925336
NM_004937.3(CTNS):c.852+1G>A	rs2150925483
NM_004937.3(CTNS):c.853-1G>A	rs1555564588

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.