ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as not provided for hereditary sensory and autonomic neuropathy type 2

Included ClinVar conditions (19):

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Hereditary sensory and autonomic neuropathy type 2
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30b, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A; Neuropathy, hereditary sensory and autonomic, type 2B
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2B
Neuropathy, hereditary sensory, type 2C
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; 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

Minimum submission review status:		Collection method:
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)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)	rs200160858	0.00052
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.3448G>A (p.Glu1150Lys)	rs367794835	0.00001
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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