ClinVar Miner

List of variants in gene PSEN1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.*1381G>A rs362387 0.00765
NM_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_000021.4(PSEN1):c.*2580C>T rs117394753 0.00305
NM_000021.4(PSEN1):c.*672G>A rs192897390 0.00225
NM_000021.4(PSEN1):c.*3495A>G rs141799841 0.00220
NC_000014.9:g.73133653A>G rs562520783 0.00096
NM_000021.4(PSEN1):c.*230G>T rs200692223 0.00049
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.96T>C (p.Asn32=) rs201759335 0.00006
NM_000021.4(PSEN1):c.1357G>A (p.Val453Ile) rs1064797190 0.00001
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu) rs63750323
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) rs1555358260
NM_000021.4(PSEN1):c.1272C>G (p.Leu424=)
NM_000021.4(PSEN1):c.1303C>G (p.Leu435Val) rs63750001
NM_000021.4(PSEN1):c.255C>G (p.Leu85=)
NM_000021.4(PSEN1):c.263C>T (p.Pro88Leu) rs1897874329
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.42A>C (p.Ala14=)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.494G>T (p.Trp165Leu) rs1898534725
NM_000021.4(PSEN1):c.520_522del (p.Leu174del) rs2140080563
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) rs63750082
NM_000021.4(PSEN1):c.643T>C (p.Trp215Arg) rs1064797189
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235

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.