ClinVar Miner

List of variants reported for Inflammatory skin and bowel disease, neonatal, 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile)	rs61754177	0.00673
NM_003183.6(ADAM17):c.1545-7_1545-5del	rs372560151

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.