ClinVar Miner

List of variants studied for Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency by GeneReviews

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001739.2(CA5A):c.555G>A (p.Lys185=)	rs147623570	0.00011
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)	rs563971993	0.00002
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)	rs587777316	0.00001
NM_001739.2(CA5A):c.619-3421_774+502del

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.