ClinVar Miner

List of variants reported as not provided for peripheral vascular disease by GeneReviews

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.3481= (p.Trp1161=)	rs6746030	0.12070
NM_001365536.1(SCN9A):c.601T>G (p.Leu201Val)	rs80356465	0.00004
NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys)	rs80356471
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met)	rs1553491169
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)	rs41268673
NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg)	rs80356473
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)	rs80356474
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe)	rs80356476
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His)	rs80356475
NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro)	rs80356477
NM_001365536.1(SCN9A):c.406A>G (p.Ile136Val)	rs80356468
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val)	rs80356478
NM_001365536.1(SCN9A):c.616A>G (p.Asn206Asp)	rs80356466
NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser)	rs80356469
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)	rs1698638581
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)	rs80356470

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