ClinVar Miner

List of variants in gene PSEN1 reported by MGZ Medical Genetics Center

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)	rs63750083
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)	rs63750082
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)

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