ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type X by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (9):

Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease type X

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)	rs863224974
NM_000166.6(GJB1):c.541G>A (p.Val181Met)	rs879253909
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002

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.