List of variants in gene PSEN2 reported by VIB Department of Molecular Genetics, University of Antwerp

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)	rs58973334	0.01433
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)	rs63750197	0.00073
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala)	rs63750110	0.00004
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg)	rs63750207	0.00003
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met)	rs63750666	0.00002
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile)	rs63750812	0.00001
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu)	rs63750880	0.00001
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val)	rs63750048
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)	rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg)	rs28936380
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)	rs63750215
NM_000447.3(PSEN2):c.715A>G (p.Met239Val)	rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile)	rs63749884

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