List of variants in gene APP reported as pathogenic by OMIM

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

Total variants: 18

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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.1995G>C (p.Glu665Asp)	rs63750363	0.00001
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)	rs281865161
NM_000484.4(APP):c.2018C>T (p.Ala673Val)	rs193922916
NM_000484.4(APP):c.2075C>G (p.Ala692Gly)	rs63750671
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.2078A>G (p.Glu693Gly)	rs63751039
NM_000484.4(APP):c.2080G>A (p.Asp694Asn)	rs63749810
NM_000484.4(APP):c.2113C>G (p.Leu705Val)	rs63750921
NM_000484.4(APP):c.2140A>G (p.Thr714Ala)	rs63750643
NM_000484.4(APP):c.2141C>T (p.Thr714Ile)	rs63750973
NM_000484.4(APP):c.2143G>A (p.Val715Met)	rs63750734
NM_000484.4(APP):c.2146A>G (p.Ile716Val)	rs63750399
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.2149G>T (p.Val717Phe)	rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly)	rs63749964

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