ClinVar Miner

List of variants reported as likely benign for intermediate Charcot-Marie-Tooth disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (34):

Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease, axonal, type 2GG
Charcot-Marie-Tooth Disease, axonal, type 2GG; Charcot-Marie-Tooth disease, dominant intermediate A
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 dominant intermediate B
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Autosomal dominant Charcot-Marie-Tooth disease type 2M; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate C; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate B; Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Deafness, congenital, and adult-onset progressive leukoencephalopathy
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 2I
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
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 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Neuropathy, congenital hypomyelinating, 2
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, dominant intermediate G
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.*2408G>A	rs11996204	0.02523
NM_018972.4(GDAP1):c.*1162T>C	rs113017051	0.00611
NM_018972.4(GDAP1):c.*723G>A	rs116863614	0.00512
NM_018972.4(GDAP1):c.*1819T>C	rs141157275	0.00466
NM_018972.4(GDAP1):c.*1006C>T	rs145523828	0.00367
NM_000530.8(MPZ):c.504G>A (p.Val168=)	rs145592910	0.00074
NM_018972.4(GDAP1):c.*1701T>C	rs781146378	0.00038
NM_000530.8(MPZ):c.*52G>A	rs774701563	0.00014
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)	rs138454151	0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	rs202176679	0.00005
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)	rs530923760	0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)	rs768285660	0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=)	rs202214529	0.00003
NM_003680.4(YARS1):c.684+3A>G	rs375332060	0.00002
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=)	rs201604679	0.00001
NM_000530.8(MPZ):c.-49C>A	rs750777955
NM_018972.4(GDAP1):c.*1639A>G	rs145245478
NM_018972.4(GDAP1):c.*1639A>T	rs145245478

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