List of variants in gene PSEN1 reported by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val)	rs63750249	0.00001
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro)	rs63750761
NM_000021.4(PSEN1):c.722T>C (p.Leu241Pro)
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	rs63750526
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)	rs199723282
NM_000021.4(PSEN1):c.869-1G>A	rs63750219

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