ClinVar Miner

List of variants in gene APP reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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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.1458+10G>A rs201290605 0.00003
NM_000484.4(APP):c.2148C>A (p.Ile716=) rs145564988

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