List of variants in gene PSEN1 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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.617G>C (p.Gly206Ala)	rs63750082	0.00013
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala)	rs63751229
NM_000021.4(PSEN1):c.849T>G (p.Phe283Leu)

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