ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2I by Fulgent Genetics

Included ClinVar conditions (3):

Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate 3; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_000530.6(MPZ):c.133C>T (p.Arg45Trp)	rs200151353
NM_000530.6(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.6(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603
NM_000530.7(MPZ):c.397C>A (p.Pro133Thr)	rs1553259648

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.