ClinVar Miner

List of variants in gene PSEN1 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)	rs201776669	0.00041
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)	rs143782428	0.00012

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