ClinVar Miner

List of variants reported as pathogenic for peripheral vascular disease by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (19):

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, hereditary hemorrhagic, type 1
Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 2; Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 5

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)	rs1555153131
NM_001114753.3(ENG):c.1A>G (p.Met1Val)	rs1060501418

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