ClinVar Miner

List of variants in gene combination LOC130064454, PRX reported as likely benign for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (28):

Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 1D; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 4G; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4K
Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4F
Leigh syndrome due to mitochondrial complex IV deficiency; Charcot-Marie-Tooth disease type 4K
Leigh syndrome; Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_181882.3(PRX):c.69G>A (p.Thr23=)	rs142535919	0.00008
NM_181882.3(PRX):c.102A>C (p.Val34=)	rs761347226	0.00007
NM_181882.3(PRX):c.108C>A (p.Gly36=)	rs771407657	0.00002
NM_181882.3(PRX):c.120G>A (p.Glu40=)	rs748206641	0.00001
NM_181882.3(PRX):c.75G>A (p.Ala25=)	rs766160977	0.00001
NM_181882.3(PRX):c.81C>T (p.Thr27=)	rs988404691	0.00001
NM_181882.3(PRX):c.105G>A (p.Ala35=)
NM_181882.3(PRX):c.108C>G (p.Gly36=)	rs771407657
NM_181882.3(PRX):c.135G>C (p.Arg45=)	rs779875514
NM_181882.3(PRX):c.138G>A (p.Glu46=)	rs1477884504
NM_181882.3(PRX):c.144C>T (p.Arg48=)
NM_181882.3(PRX):c.159C>G (p.Ala53=)	rs763507069
NM_181882.3(PRX):c.159C>T (p.Ala53=)
NM_181882.3(PRX):c.28-13C>T
NM_181882.3(PRX):c.28-14G>A
NM_181882.3(PRX):c.28-14G>C
NM_181882.3(PRX):c.28-15C>T
NM_181882.3(PRX):c.28-20C>T	rs757487813
NM_181882.3(PRX):c.28-4G>A
NM_181882.3(PRX):c.60C>T (p.Ile20=)
NM_181882.3(PRX):c.81C>G (p.Thr27=)
NM_181882.3(PRX):c.93C>A (p.Gly31=)

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