ClinVar Miner

List of variants in gene CHMP2B, POU1F1 studied 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: 8
Download table as spreadsheet
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*139T>A rs4988463
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000306.4(POU1F1):c.*140A>T rs33936108
NM_000306.4(POU1F1):c.*213= rs6792500
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000306.4(POU1F1):c.666-6C>T rs201995103
NM_014043.4(CHMP2B):c.*1589G>A rs1060241

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.