ClinVar Miner

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

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.-111G>C rs459543 0.08614
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238 0.02492
NM_000484.4(APP):c.1299+9T>C rs114675472 0.01268
NM_000484.4(APP):c.1224+20C>T rs45543035 0.01021
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065 0.00856
NM_000484.4(APP):c.*967G>A rs45541739 0.00669
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_000484.4(APP):c.*914G>A rs736479 0.00338
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_000484.4(APP):c.826A>T (p.Thr276Ser) rs202198008 0.00176
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_000484.4(APP):c.2217C>T (p.Asp739=) rs145277462 0.00115
NM_000484.4(APP):c.1458+19G>A rs112732953 0.00109
NM_000484.4(APP):c.741C>T (p.Asp247=) rs148832151 0.00106
NM_000484.4(APP):c.663-7T>C rs183084252 0.00089
NM_000484.4(APP):c.2212-10T>C rs45513597 0.00081
NM_000484.4(APP):c.1305C>T (p.Phe435=) rs148180403 0.00069
NM_000484.4(APP):c.1810G>A (p.Val604Met) rs199887707 0.00050
NM_000484.4(APP):c.663-9C>A rs199587668 0.00045
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708 0.00043
NM_000484.4(APP):c.1225-11T>A rs201326163 0.00034
NM_000484.4(APP):c.*724C>T rs146774213 0.00033
NM_000484.4(APP):c.2017G>A (p.Ala673Thr) rs63750847 0.00031
NM_000484.4(APP):c.355+9G>A rs371324252 0.00013
NM_000484.4(APP):c.1833A>G (p.Gly611=) rs200922667 0.00012
NM_000484.4(APP):c.225+14G>A rs199644062 0.00011
NM_000484.4(APP):c.*913C>G rs202081585 0.00010
NM_000484.4(APP):c.225+7C>A rs201865168 0.00009
NM_000484.4(APP):c.786C>T (p.Tyr262=) rs140941257 0.00009
NM_000484.4(APP):c.975C>T (p.Gly325=) rs201622977 0.00006
NM_000484.4(APP):c.890C>T (p.Thr297Met) rs557227002 0.00003
NM_000484.4(APP):c.355+16G>A rs201791126 0.00001
NM_000484.4(APP):c.1224+16C>A rs199585064
NM_000484.4(APP):c.1458+18C>T rs200083249
NM_000484.4(APP):c.1770C>T (p.Asn590=)
NM_000484.4(APP):c.1848C>T (p.Asp616=)
NM_000484.4(APP):c.2148C>A (p.Ile716=) rs145564988
NM_000484.4(APP):c.581A>G (p.Asp194Gly)
NM_000484.4(APP):c.865+11A>G

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