ClinVar Miner

List of variants in gene APP reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
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.2133C>A (p.Val711=) rs116650065 0.00856
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.2212-11_2212-10del rs112965435 0.00206
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_000484.4(APP):c.741C>T (p.Asp247=) rs148832151 0.00106
NM_000484.4(APP):c.1305C>T (p.Phe435=) rs148180403 0.00069
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708 0.00043
NM_000484.4(APP):c.226G>A (p.Val76Ile) rs151188448 0.00039
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000484.4(APP):c.917G>A (p.Arg306His) rs202218688 0.00004
NM_000484.4(APP):c.*2C>T rs777073624 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000484.4(APP):c.1138G>A (p.Glu380Lys) rs755703063 0.00001
NM_000484.4(APP):c.283C>G (p.Gln95Glu) rs950592627 0.00001
NM_000484.4(APP):c.*6C>T
NM_000484.4(APP):c.1253G>C (p.Arg418Pro) rs200487832
NM_000484.4(APP):c.1457G>A (p.Arg486Gln) rs200268317
NM_000484.4(APP):c.1886T>C (p.Val629Ala) rs1555893907
NM_000484.4(APP):c.2005G>A (p.Val669Met)
NM_000484.4(APP):c.2032G>C (p.Asp678His) rs63750064
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2148C>A (p.Ile716=) rs145564988
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.2150T>G (p.Val717Gly) rs63749964
NM_000484.4(APP):c.2222_2224del (p.Ala741del) rs759157514
NM_000484.4(APP):c.347G>A (p.Arg116His) rs2061787725
NM_000484.4(APP):c.807C>T (p.Thr269=) rs1568868266
NM_000484.4(APP):c.819CAC[6] (p.Thr280del)
Single allele

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