List of variants reported as pathogenic for cartilage-hair hypoplasia by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00156
NR_003051.4(RMRP):n.6C>T	rs772443941	0.00016
NR_003051.4(RMRP):n.-21_-2dup	rs1554651411
NR_003051.4(RMRP):n.197C>T	rs948931144
NR_003051.4(RMRP):n.220A>G	rs936059863

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.