ClinVar Miner

List of variants reported as likely pathogenic for ABeta amyloidosis, Italian type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
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.2061A>C (p.Lys687Asn)

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