ClinVar Miner

List of variants in gene PSEN2 reported as uncertain significance for Alzheimer disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000447.3(PSEN2):c.*103C>T rs571670427
NM_000447.3(PSEN2):c.*120G>A rs143059995
NM_000447.3(PSEN2):c.*132T>C rs186288674
NM_000447.3(PSEN2):c.*20G>A rs201399057
NM_000447.3(PSEN2):c.*306G>A rs145129440
NM_000447.3(PSEN2):c.*377C>T rs202160009
NM_000447.3(PSEN2):c.*405G>T rs116807339
NM_000447.3(PSEN2):c.*487G>C rs7962
NM_000447.3(PSEN2):c.*72T>C rs886046062
NM_000447.3(PSEN2):c.-144A>G rs886046061
NM_000447.3(PSEN2):c.-278C>T rs199532840
NM_000447.3(PSEN2):c.-82T>C rs200607063
NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) rs753503617
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.222C>G (p.Gly74=) rs773522773
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe)
NM_000447.3(PSEN2):c.305T>C (p.Val102Ala)
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) rs749301595
NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys)
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr)
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016

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