List of variants in gene PSEN1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	rs63750900	0.00001
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu)	rs63750323
NM_000021.4(PSEN1):c.263C>T (p.Pro88Leu)	rs1897874329
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	rs63751037
NM_000021.4(PSEN1):c.520_522del (p.Leu174del)	rs2140080563
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val)	rs63750082
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)	rs63750301
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)	rs63750231
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val)	rs63751235

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