ClinVar Miner

List of variants in gene CLPX studied for hepatic porphyria

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006660.5(CLPX):c.1146+13G>A	rs2946670	0.99995
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)	rs1555412542

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