List of variants in gene PSEN1 reported by GeneReviews

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	rs63749824	0.00004
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	rs63750900	0.00001
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)	rs63750218
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	rs63750083
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu)	rs63750815
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	rs63751399
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	rs63751037
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)	rs63750306
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe)	rs63750577
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)	rs63751068
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)	rs63751287
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser)	rs63751320
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)	rs63750231
NM_000021.4(PSEN1):c.869-1624_956-2452del

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.