ClinVar Miner

List of variants studied for hepatic porphyria by GenomeConnect, ClinGen

Included ClinVar conditions (18):

Acute intermittent porphyria
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
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Familial porphyria cutanea tarda
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
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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000097.7(CPOX):c.814A>C (p.Asn272His)	rs1131857	0.24099
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr)	rs1553238545

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