ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4B2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00201
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.*1091G>A rs182391972 0.00013
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008

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.