ClinVar Miner

List of variants studied for paroxysmal extreme pain disorder by GenomeConnect - Invitae Patient Insights Network

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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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)	rs201338643	0.00014
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr)	rs199715588	0.00005
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)	rs121908918	0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)	rs202152511	0.00004
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)	rs199824489	0.00002
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)	rs1413202256	0.00001
NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly)	rs753287730
NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr)	rs754401649

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