ClinVar Miner

List of variants in gene MFN2 studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1143_1145GGC[1] (p.Ala383del) rs1553144065
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.3(MFN2):c.205G>T (p.Val69Phe) rs28940296
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_014874.3(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.3(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.3(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.3(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294

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.