ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2D

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.30594642G>A
NM_001316772.1(GARS1):c.-231T>A rs527307703
NM_001316772.1(GARS1):c.-339T>C rs78980639
NM_002047.3(GARS):c.-205C>T rs17159262
NM_002047.3(GARS):c.-217A>G rs2970504
NM_002047.3(GARS):c.-225G>A rs148593022
NM_002047.3(GARS):c.-317G>A rs116125961
NM_002047.4(GARS1):c.*67C>G rs142498676
NM_002047.4(GARS1):c.*73A>G rs113598818
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1613+9T>C rs75855065
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438

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.