ClinVar Miner

List of variants in gene PSEN1 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: 68
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HGVS dbSNP
NM_000021.3(PSEN1):c.-214T>G rs886050662
NM_000021.3(PSEN1):c.-226C>A rs200531676
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.4(PSEN1):c.*1145G>A rs886050666
NM_000021.4(PSEN1):c.*119T>C rs201908084
NM_000021.4(PSEN1):c.*1360G>C rs886050667
NM_000021.4(PSEN1):c.*1380C>T rs181825217
NM_000021.4(PSEN1):c.*1381G>A rs362387
NM_000021.4(PSEN1):c.*1415C>A rs574671310
NM_000021.4(PSEN1):c.*1418G>A rs886050668
NM_000021.4(PSEN1):c.*1585A>T rs185405511
NM_000021.4(PSEN1):c.*1626C>A rs886050669
NM_000021.4(PSEN1):c.*1716_*1720TATGA[4] rs886050670
NM_000021.4(PSEN1):c.*1725A>G rs886050671
NM_000021.4(PSEN1):c.*1791A>T rs177412
NM_000021.4(PSEN1):c.*1792T>C rs886050672
NM_000021.4(PSEN1):c.*1867_*1870ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*1874G>T rs141117435
NM_000021.4(PSEN1):c.*1958T>C rs779158922
NM_000021.4(PSEN1):c.*2108G>A rs368329004
NM_000021.4(PSEN1):c.*211G>A rs200186908
NM_000021.4(PSEN1):c.*2160C>T rs886050674
NM_000021.4(PSEN1):c.*2161G>A rs535590491
NM_000021.4(PSEN1):c.*2325A>G rs546052493
NM_000021.4(PSEN1):c.*2330G>T rs886050675
NM_000021.4(PSEN1):c.*23T>C rs886050664
NM_000021.4(PSEN1):c.*2401C>T rs886050676
NM_000021.4(PSEN1):c.*2529G>T rs574941431
NM_000021.4(PSEN1):c.*2633G>A rs564490926
NM_000021.4(PSEN1):c.*2659A>T rs531711335
NM_000021.4(PSEN1):c.*2758T>G rs886050677
NM_000021.4(PSEN1):c.*2836C>T rs886050678
NM_000021.4(PSEN1):c.*2865C>A rs886050679
NM_000021.4(PSEN1):c.*3033_*3034CT[2] rs886050680
NM_000021.4(PSEN1):c.*3199C>T rs371718090
NM_000021.4(PSEN1):c.*3495A>G rs141799841
NM_000021.4(PSEN1):c.*360A>C rs202176028
NM_000021.4(PSEN1):c.*3619A>G rs886050681
NM_000021.4(PSEN1):c.*3848G>C rs886050682
NM_000021.4(PSEN1):c.*3941C>A rs144455736
NM_000021.4(PSEN1):c.*4078C>T rs533047073
NM_000021.4(PSEN1):c.*4095A>G rs369540718
NM_000021.4(PSEN1):c.*4339T>C rs757221245
NM_000021.4(PSEN1):c.*4367T>C rs574271978
NM_000021.4(PSEN1):c.*595T>C rs886050665
NM_000021.4(PSEN1):c.*672G>A rs192897390
NM_000021.4(PSEN1):c.*71A>G rs201452973
NM_000021.4(PSEN1):c.*768A>G rs200194433
NM_000021.4(PSEN1):c.-180C>T rs200632899
NM_000021.4(PSEN1):c.-191C>T rs199680675
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) rs116466962
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) rs201500006
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)
NM_000021.4(PSEN1):c.514_516TTG[1] (p.Leu174del)
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)

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