ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2J

Included ClinVar conditions (6):

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; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2
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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353	0.00051
NM_000530.8(MPZ):c.275T>A (p.Val92Glu)	rs1352220911	0.00001
NM_000530.8(MPZ):c.118_119delinsCT (p.Gly40Leu)
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)	rs1430687377

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