List of variants in gene PSEN1 reported as pathogenic for Alzheimer disease, familial, with spastic paraparesis and unusual plaques

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr)	rs63749891
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)	rs63750231
NM_000021.4(PSEN1):c.869-1G>T	rs63750219

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