ClinVar Miner

List of variants studied for Alzheimer disease by Genome-Nilou Lab

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000447.3(PSEN2):c.1191+24G>A rs2855562 0.54601
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240 0.48653
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_000447.3(PSEN2):c.142-42G>A rs1295643 0.48629
NM_000447.3(PSEN2):c.142-29T>C rs1295644
NM_000447.3(PSEN2):c.498+30G>C rs2236910
NM_000447.3(PSEN2):c.887-24T>C rs2802267

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