ClinVar Miner

List of variants reported as likely pathogenic for Alzheimer disease type 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000410.4(HFE):c.76+2T>C rs776994377 0.00001
NM_000484.4(APP):c.2061A>C (p.Lys687Asn)
NM_000484.4(APP):c.2155A>C (p.Thr719Pro) rs2146237857

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