ClinVar Miner

List of variants studied for peripheral vascular disease by Blueprint Genetics

Included ClinVar conditions (20):

Generalized juvenile polyposis/juvenile polyposis coli; Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia
Primary erythromelalgia
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Paroxysmal extreme pain disorder
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 7
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Small fiber neuropathy
Systemic lupus erythematosus; Telangiectasia, hereditary hemorrhagic, type 1
Telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 2; Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 5

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

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284	0.00001
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)	rs730880096

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