List of variants in gene PSEN1 reported as likely benign for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.548+212A>T	rs77983620	0.03109
NM_000021.4(PSEN1):c.480+144C>T	rs72734456	0.02983
NM_000021.4(PSEN1):c.1248+8T>C	rs362382	0.01609
NM_000021.4(PSEN1):c.339-245A>G	rs80331025	0.00979
NM_000021.4(PSEN1):c.*230G>T	rs200692223	0.00049
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)	rs201776669	0.00041
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)	rs116640707	0.00037
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)	rs143782428	0.00012
NM_000021.4(PSEN1):c.96T>C (p.Asn32=)	rs201759335	0.00006
NM_000021.4(PSEN1):c.-136+213G>A	rs199959804
NM_000021.4(PSEN1):c.1129+113T>C
NM_000021.4(PSEN1):c.1272C>G (p.Leu424=)
NM_000021.4(PSEN1):c.255C>G (p.Leu85=)
NM_000021.4(PSEN1):c.42A>C (p.Ala14=)
NM_000021.4(PSEN1):c.63C>T (p.His21=)	rs1594964688
NM_000021.4(PSEN1):c.956-217_956-216insA

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.