ClinVar Miner

List of variants studied for porphyria by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (23):

Acute intermittent porphyria
Acute intermittent porphyria; Encephalopathy, porphyria-related; Leukoencephalopathy, porphyria-related
Alzheimer disease; Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda
Autosomal erythropoietic protoporphyria
CPOX-related hereditary coproporphyria
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Cutaneous porphyria
Familial porphyria cutanea tarda
Harderoporphyria
Hepatoerythropoietic porphyria
Hereditary coproporphyria
Hereditary coproporphyria; Harderoporphyria
Porphobilinogen synthase deficiency
Porphyria cutanea tarda
Protoporphyria, erythropoietic, 1
Protoporphyria, erythropoietic, 2
Sporadic porphyria cutanea tarda
Variegate porphyria
Variegate porphyria, childhood-onset
Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda
Variegate porphyria; Variegate porphyria, childhood-onset
X-linked erythropoietic protoporphyria
X-linked erythropoietic protoporphyria; X-linked sideroblastic anemia 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000097.7(CPOX):c.488_509delinsAGCTGCTGATTCTGG (p.Val163fs)
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr)	rs2134859037
NM_000190.4(HMBS):c.772-2A>G

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.