ClinVar Miner

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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	rs63751399
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)	rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)	rs1555355250

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