ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease dominant intermediate f by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_021629.4(GNB4):c.195C>T (p.Tyr65=) rs768164095
NM_021629.4(GNB4):c.204-4C>G rs377746889
NM_021629.4(GNB4):c.27A>G (p.Gln9=) rs376598495
NM_021629.4(GNB4):c.699+10T>C rs1433602623
NM_021629.4(GNB4):c.771A>G (p.Ala257=) rs878855069
NM_021629.4(GNB4):c.84A>C (p.Ala28=) rs770125763
NM_021629.4(GNB4):c.916+9A>G rs376068792
NM_021629.4(GNB4):c.96+9T>C rs1222924595

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.