ClinVar Miner

List of variants in gene EVC reported as likely pathogenic for Chondroectodermal dysplasia; Curry-Hall syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_153717.3(EVC):c.2562-2A>G
NM_153717.3(EVC):c.2562-3_2584del
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) rs755381180

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.