ClinVar Miner

List of variants reported as likely pathogenic for Alzheimer disease type 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):

Alzheimer disease type 1
Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1
Ischemic stroke; Alzheimer disease type 1; Preeclampsia/eclampsia 1; Essential hypertension, genetic
Myeloperoxidase deficiency; Alzheimer disease type 1
Quebec platelet disorder; Alzheimer disease type 1
Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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

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