ClinVar Miner

List of variants in gene GDAP1 reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_018972.4(GDAP1):c.*797A>G rs7007283 0.99369
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.29968
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.*2214A>G rs10504580 0.26909
NM_018972.4(GDAP1):c.*1878G>T rs16938896 0.18836
NM_018972.4(GDAP1):c.579+417A>G rs16938894 0.18822
NM_018972.4(GDAP1):c.*357A>G rs1135715 0.18199
NM_018972.4(GDAP1):c.*830C>G rs4737414 0.18198
NM_018972.4(GDAP1):c.*1173G>T rs72665430 0.06104
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02466
NM_018972.4(GDAP1):c.*561C>G rs80136809 0.00699
NM_018972.4(GDAP1):c.*920C>G rs6982840 0.00506
NM_018972.4(GDAP1):c.*2244T>C rs113763295 0.00479
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00448
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.*2463A>G rs9643686 0.00052
NM_018972.4(GDAP1):c.*1429A>G rs78545774 0.00034
NC_000008.11:g.74350373_74350374del rs577136201

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.