List of variants in gene PSEN1 studied for Frontotemporal dementia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.868+16G>T	rs165932	0.61457
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)	rs1566630884	0.00001
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)	rs114317083	0.00001
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)	rs63750083
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)	rs1897874329
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	rs63751399
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)	rs1566630791
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)	rs1566630811

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.