ClinVar Miner

List of variants studied for porphyria by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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

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HGVS	dbSNP	gnomAD frequency
NM_000190.4(HMBS):c.210+1G>C	rs2134859316
NM_000190.4(HMBS):c.211-1G>T	rs1565754452
NM_000190.4(HMBS):c.815del (p.Lys272fs)

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