ClinVar Miner

List of variants in gene SBF1 reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232
NM_002972.4(SBF1):c.4813-18C>T rs41281541
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206

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.