ClinVar Miner

List of variants in gene APP reported as pathogenic for Alzheimer disease

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NC_000021.8:g.(?_27251861)_(27544138_?)dup
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2018C>T (p.Ala673Val) rs193922916
NM_000484.4(APP):c.2077G>C (p.Glu693Gln) rs63750579
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val) rs2146237965
NM_000484.4(APP):c.2147T>C (p.Ile716Thr) rs63750851
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264

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