ClinVar Miner

List of variants in gene PPOX reported as pathogenic for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000309.4(PPOX):c.503G>A (p.Arg168His) rs41270025
NM_001122764.2(PPOX):c.199delC (p.Leu67Terfs) rs786204784
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) rs28936677
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
PPOX, 1-BP INS, 1022G
PPOX, 2-BP DEL, 537AT
PPOX, 5-BP DEL, NT1239

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.