List of variants in gene PPOX reported as pathogenic for Variegate porphyria

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)	rs28936677	0.00005
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)	rs374936130	0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His)	rs41270025	0.00001
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs)	rs2101902523
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	rs121918324
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)	rs786204784
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	rs121918325
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs)	rs1571357779
NM_001122764.3(PPOX):c.59A>C (p.His20Pro)	rs121918326
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg)	rs121918323
NM_001122764.3(PPOX):c.745dup (p.Val249fs)	rs1571369150
PPOX, IVS11DS, G-A, -1

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.