List of variants in gene PSEN1 reported by Human Genetics Group at Institute of Prion Diseases London, University College London

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.1177G>T (p.Val393Phe)	rs1566656702
NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser)	rs1566657804
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)	rs1566630811
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)	rs1566630884
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)	rs1566630910
NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr)	rs1566638673
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro)	rs63750009
NM_000021.4(PSEN1):c.869-1G>A	rs63750219

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