ClinVar Miner

List of variants in gene PSEN1 studied for Frontotemporal dementia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg) rs1897874329
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) rs1566630884
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)

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