ClinVar Miner

List of variants in gene PSEN2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00094
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00018
NM_000447.3(PSEN2):c.66G>A (p.Ser22=) rs367645069 0.00017
NM_000447.3(PSEN2):c.279G>C (p.Val93=) rs200350640 0.00002
NM_000447.3(PSEN2):c.390G>C (p.Ser130=) rs781597971 0.00002
NM_000447.3(PSEN2):c.1284C>T (p.Phe428=) rs144318314 0.00001
NM_000447.3(PSEN2):c.1092C>T (p.Leu364=)
NM_000447.3(PSEN2):c.1263G>A (p.Thr421=)
NM_000447.3(PSEN2):c.1272C>T (p.Leu424=)
NM_000447.3(PSEN2):c.294C>T (p.Cys98=)
NM_000447.3(PSEN2):c.375T>C (p.Thr125=)
NM_000447.3(PSEN2):c.588T>C (p.Asn196=)
NM_000447.3(PSEN2):c.633C>T (p.Phe211=)
NM_000447.3(PSEN2):c.693C>T (p.Tyr231=)

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