ClinVar Miner

List of variants studied for acute hepatic porphyria by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000097.7(CPOX):c.990A>G (p.Glu330=) rs1729995

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.