ClinVar Miner

List of variants in gene APP studied for Cerebral amyloid angiopathy, APP-related

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000484.3(APP):c.-199G>A rs761755102 0.00046
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00009
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000484.4(APP):c.2125G>A (p.Gly709Ser) rs201269325 0.00003
NM_000484.4(APP):c.1409G>A (p.Arg470His) rs182162117 0.00002
NC_000021.8:g.(?_27252860)_(27543089_?)dup
NM_000484.4(APP):c.1958G>A (p.Arg653Gln)
NM_000484.4(APP):c.2077G>C (p.Glu693Gln) rs63750579
NM_000484.4(APP):c.2113C>G (p.Leu705Val) rs63750921
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.752G>T (p.Gly251Val) rs775431597
NM_000484.4(APP):c.892G>A (p.Gly298Arg)

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