ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_014629.4(ARHGEF10):c.1075+13A>G rs4543586
NM_014629.4(ARHGEF10):c.2143+13T>G rs2294041
NM_014629.4(ARHGEF10):c.3398-16A>G rs7832438
NM_014629.4(ARHGEF10):c.387A>G (p.Val129=) rs749822
NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=) rs7003969
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110

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.