ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.*2408G>A rs11996204 0.02523
NM_018972.4(GDAP1):c.*1162T>C rs113017051 0.00611
NM_018972.4(GDAP1):c.*723G>A rs116863614 0.00512
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NM_018972.4(GDAP1):c.*1006C>T rs145523828 0.00367
NM_018972.4(GDAP1):c.*1701T>C rs781146378 0.00025
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T rs145245478

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.