ClinVar Miner

List of variants reported for Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.86dup (p.Lys30fs) rs1592350883
NM_013254.4(TBK1):c.87G>A (p.Lys29=) rs1592350887

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.