ClinVar Miner

List of variants in gene PSEN1 reported as likely benign for Alzheimer disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000021.4(PSEN1):c.*1147C>T rs165935
NM_000021.4(PSEN1):c.*1690T>C rs10143618
NM_000021.4(PSEN1):c.*2430T>C rs362388
NM_000021.4(PSEN1):c.*2864A>C rs362389
NM_000021.4(PSEN1):c.*313C>A rs362384
NM_000021.4(PSEN1):c.*3360A>G rs362390
NM_000021.4(PSEN1):c.*3525A>G rs362391
NM_000021.4(PSEN1):c.*3632G>A rs362393
NM_000021.4(PSEN1):c.*3637C>T rs114000457
NM_000021.4(PSEN1):c.*364T>C rs362385
NM_000021.4(PSEN1):c.*3722C>T rs362344
NM_000021.4(PSEN1):c.*3823G>A rs362394
NM_000021.4(PSEN1):c.*3889G>A rs17125952
NM_000021.4(PSEN1):c.*4030A>G rs186752250
NM_000021.4(PSEN1):c.*4147T>G rs362396
NM_000021.4(PSEN1):c.*947G>A rs7523
NM_000021.4(PSEN1):c.1248+8T>C rs362382
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721

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