List of variants studied for Charcot-Marie-Tooth disease type X by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln)	rs141326782	0.01437
NM_000166.6(GJB1):c.235C>T (p.Leu79=)	rs144717157	0.00186
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)	rs779696968	0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663	0.00001
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)	rs116840819
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.287C>T (p.Ala96Val)	rs11551260
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)	rs587777876

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.