ClinVar Miner

List of variants in gene MAPT reported as pathogenic for Pick disease

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) rs63750512 0.00001
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr) rs63750129
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) rs63750635
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) rs63751264

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.