ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as pathogenic for paroxysmal extreme pain disorder

Included ClinVar conditions (9):

Paroxysmal extreme pain disorder
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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)	rs121908910
NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe)	rs121908912
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)	rs121908911
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe)	rs121908913
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn)	rs121908914
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr)	rs121908914
NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val)	rs1553474394
NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile)	rs121908915
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro)	rs1131691776
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu)	rs879253994

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