ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2A2 by Baylor Genetics

Included ClinVar conditions (6):

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)	rs369762154	0.00011
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)	rs766998571	0.00001
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)	rs2100849130
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.515A>G (p.Gln172Arg)	rs1638957491
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)	rs1639045962

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.