ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Institute of Human Genetics,Cologne University

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000902.4(MME):c.769C>A (p.Arg257Ser) rs145687755
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs) rs1555378419
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) rs1467438651
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) rs1437730951
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) rs756509201
NM_018972.2:c.695_1077del rs1554548327
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344

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.