List of variants reported as pathogenic for Alzheimer disease type 1

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03880
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	rs119468010	0.00173
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)	rs63750066	0.00006
NM_000410.4(HFE):c.1006+1G>A	rs573745685	0.00004
NM_000484.4(APP):c.1995G>C (p.Glu665Asp)	rs63750363	0.00001
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)	rs281865161
NM_000484.4(APP):c.2075C>G (p.Ala692Gly)	rs63750671
NM_000484.4(APP):c.2078A>G (p.Glu693Gly)	rs63751039
NM_000484.4(APP):c.2140A>G (p.Thr714Ala)	rs63750643
NM_000484.4(APP):c.2141C>T (p.Thr714Ile)	rs63750973
NM_000484.4(APP):c.2143G>A (p.Val715Met)	rs63750734
NM_000484.4(APP):c.2146A>G (p.Ile716Val)	rs63750399
NM_000484.4(APP):c.2149G>A (p.Val717Ile)	rs63750264
NM_000484.4(APP):c.2149G>C (p.Val717Leu)	rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe)	rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly)	rs63749964

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