List of variants in gene PSEN1 reported as uncertain significance 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)	rs764971634	0.00002
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)	rs63751174
NM_000021.4(PSEN1):c.1141C>A (p.Leu381Ile)	rs63750687
NM_000021.4(PSEN1):c.1158C>A (p.Phe386Leu)	rs1555358095
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)	rs63750083
NM_000021.4(PSEN1):c.389T>C (p.Leu130Pro)	rs1566630838
NM_000021.4(PSEN1):c.525C>G (p.Phe175Leu)	rs1566638724
NM_000021.4(PSEN1):c.689G>A (p.Ser230Asn)	rs1555355284
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val)	rs63751130
NM_000021.4(PSEN1):c.715A>G (p.Lys239Glu)	rs1595035012
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)	rs199723282
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala)	rs63751229
NM_000021.4(PSEN1):c.823G>C (p.Ala275Pro)	rs1555355866

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