ClinVar Miner

List of variants in gene MAPT reported as likely benign for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_016835.4(MAPT):c.1131C>A (p.Arg377=) rs776028517
NM_016835.4(MAPT):c.120C>T (p.Asp40=) rs191362093
NM_016835.4(MAPT):c.1280C>T (p.Ser427Phe) rs143956882
NM_016835.4(MAPT):c.1398G>A (p.Thr466=) rs139748238
NM_016835.4(MAPT):c.1403T>C (p.Ile468Thr) rs114635790
NM_016835.4(MAPT):c.1413G>A (p.Pro471=) rs201046056
NM_016835.4(MAPT):c.1482C>T (p.Pro494=) rs750910229
NM_016835.4(MAPT):c.748G>A (p.Ala250Thr) rs770014302
NM_016835.4(MAPT):c.798C>G (p.Pro266=) rs1382449748
NM_016835.4(MAPT):c.912C>T (p.His304=) rs142283842

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.