ClinVar Miner

List of variants in gene PSEN2 reported as pathogenic for Alzheimer disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000001.10:g.(?_227069589)_(227083300_?)del
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) rs28936380
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884

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