ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (30):

Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A
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 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 4B2 with early-onset glaucoma
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
Cytochrome-c oxidase deficiency disease; 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	rs80338926	0.00003
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)	rs1580900150
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs)	rs1580889913
NM_024577.4(SH3TC2):c.3676-8G>A	rs772823083

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