ClinVar Miner

List of variants in gene RETREG1 reported as benign 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=)	rs162848	0.71313
NM_001034850.3(RETREG1):c.1000+20G>T	rs162850	0.71290
NM_001034850.3(RETREG1):c.459-25093T>C	rs332811	0.57203
NM_001034850.3(RETREG1):c.873+23T>C	rs162849	0.42260
NM_001034850.3(RETREG1):c.*1012G>A	rs26016	0.37107
NM_001034850.3(RETREG1):c.*206A>C	rs32147	0.29733
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=)	rs16868675	0.08069
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr)	rs61733811	0.03341
NM_001034850.3(RETREG1):c.*592G>A	rs2401881	0.03326
NM_001034850.3(RETREG1):c.1001-17T>C	rs16868657	0.02685
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)	rs34432513	0.01144
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=)	rs61741225	0.00939
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys)	rs78314670	0.00642
NM_001034850.3(RETREG1):c.*235C>A	rs144074026	0.00551
NM_001034850.3(RETREG1):c.*455dup	rs140982908
NM_001034850.3(RETREG1):c.*71dup	rs200951949

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