List of variants in gene PSEN2 studied for Inborn genetic diseases

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.639A>G (p.Ala213=)	rs555809980	0.00007
NM_000447.3(PSEN2):c.436A>T (p.Ile146Phe)	rs1004970794	0.00005
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys)	rs142892469	0.00004
NM_000447.3(PSEN2):c.80C>T (p.Thr27Met)	rs149354305	0.00002
NM_000447.3(PSEN2):c.773C>A (p.Ala258Asp)	rs1444327784	0.00001
NM_000447.3(PSEN2):c.992T>C (p.Phe331Ser)	rs373934941	0.00001
NM_000447.3(PSEN2):c.1168G>T (p.Ala390Ser)	rs2528009797
NM_000447.3(PSEN2):c.1174T>A (p.Phe392Ile)
NM_000447.3(PSEN2):c.1260C>G (p.Ile420Met)	rs1662082908
NM_000447.3(PSEN2):c.1288A>G (p.Thr430Ala)	rs2528017262
NM_000447.3(PSEN2):c.147C>G (p.Ser49Arg)
NM_000447.3(PSEN2):c.217C>T (p.Pro73Ser)	rs2527951662
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala)	rs766853710

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