List of variants in gene PSEN1 reported as likely pathogenic for Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)	rs63750687
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)	rs1897876766
NM_000021.4(PSEN1):c.338+7A>G	rs1897878139
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	rs63751399
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)	rs63750353
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)	rs267606983
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)	rs1362575880
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)	rs199723282
NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr)	rs63751229
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)	rs63750779

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