ClinVar Miner

List of variants studied for Neonatal ichthyosis-sclerosing cholangitis syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021101.5(CLDN1):c.369T>C (p.Gly123=) rs9869263 0.83180
GRCh37/hg19 3q28(chr3:190039387-190040504)
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) rs773766654
NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter)
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517

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.