List of variants in gene PSEN1 reported by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)	rs17125721	0.01497
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)	rs63750592	0.00030
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)	rs121917809	0.00008
NM_000021.4(PSEN1):c.322C>T (p.Arg108Trp)	rs200576075
NM_000021.4(PSEN1):c.782T>G (p.Val261Gly)	rs199723282

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