ClinVar Miner

Variants in gene APP with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
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
Single allele

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