ClinVar Miner

List of variants in gene MFN2 studied for Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
MFN2, EX7-8DEL
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.3(MFN2):c.334G>A (p.Val112Met) rs757937208
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_014874.3(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu)

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.