List of variants reported as pathogenic for Variegate porphyria, childhood-onset by OMIM

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)	rs12735723	0.00660
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.1043A>G (p.Tyr348Cys)	rs900431442
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala)	rs28936676
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	rs121918324
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)	rs767419411
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	rs121918325
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)	rs2525249140
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla)	rs2101876868
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)	rs2525294446
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.