ClinVar Miner

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

Included ClinVar conditions (4):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000021.7:g.13636378_28138533dup
NM_000484.4(APP):c.2077G>A (p.Glu693Lys)	rs63750579
NM_000484.4(APP):c.2077G>C (p.Glu693Gln)	rs63750579
NM_000484.4(APP):c.2149G>A (p.Val717Ile)	rs63750264

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