ClinVar Miner

List of variants in gene APP reported by VIB Department of Molecular Genetics, University of Antwerp

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.2017G>A (p.Ala673Thr) rs63750847 0.00031
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000484.4(APP):c.2138C>T (p.Ala713Val) rs1800557 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.2030A>G (p.His677Arg) rs63749953
NM_000484.4(APP):c.2032G>A (p.Asp678Asn) rs63750064
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2077G>A (p.Glu693Lys) rs63750579
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2113C>G (p.Leu705Val) rs63750921
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.2144T>C (p.Val715Ala) rs63750868
NM_000484.4(APP):c.2145G>A (p.Val715=) rs63750627
NM_000484.4(APP):c.2146A>G (p.Ile716Val) rs63750399
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.2150T>G (p.Val717Gly) rs63749964
NM_000484.4(APP):c.2168T>C (p.Leu723Pro) rs63751122
NM_000484.4(APP):c.2172G>C (p.Lys724Asn) rs63750151

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