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

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: 14

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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.*2C>T	rs777073624	0.00003
NM_000484.4(APP):c.1138G>A (p.Glu380Lys)	rs755703063	0.00001
NM_000484.4(APP):c.283C>G (p.Gln95Glu)	rs950592627	0.00001
NM_000484.4(APP):c.*6C>T
NM_000484.4(APP):c.1253G>C (p.Arg418Pro)	rs200487832
NM_000484.4(APP):c.1457G>A (p.Arg486Gln)	rs200268317
NM_000484.4(APP):c.1886T>C (p.Val629Ala)	rs1555893907
NM_000484.4(APP):c.2005G>A (p.Val669Met)
NM_000484.4(APP):c.2222_2224del (p.Ala741del)	rs759157514
NM_000484.4(APP):c.347G>A (p.Arg116His)	rs2061787725
NM_000484.4(APP):c.807C>T (p.Thr269=)	rs1568868266
NM_000484.4(APP):c.819CAC[6] (p.Thr280del)
Single allele

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