List of variants in gene PSEN1 reported as pathogenic by Athena Diagnostics Inc

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	rs63750082	0.00012
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	rs63749824	0.00004
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	rs63750900	0.00001
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)	rs63751416
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)	rs281875357
NM_000021.4(PSEN1):c.338+1del	rs63751475
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	rs63750450
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	rs63751037
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)	rs63750004
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)	rs63750391
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	rs63750590
NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)	rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	rs63750526
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)	rs63750301
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val)	rs63751235

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