ClinVar Miner

List of variants in gene SLC25A46 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro) rs1057519294
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs)
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile) rs1057519296
NM_138773.4(SLC25A46):c.47del (p.Gly16fs) rs1580849841
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs) rs1057518749
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu) rs1057518750
SCL25A46, 1.897-KB DEL

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.