ClinVar Miner

List of variants reported as benign for Variegate porphyria

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122764.3(PPOX):c.-247C>A rs2301286 0.34791
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) rs36013429 0.04636
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00936
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) rs147445258 0.00642
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00392
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00159

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.