ClinVar Miner

List of variants reported as likely pathogenic for Alzheimer disease 3

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000021.4(PSEN1):c.1168A>G (p.Ser390Gly)
NM_000021.4(PSEN1):c.1184A>G (p.Lys395Arg)
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) rs1555358260
NM_000021.4(PSEN1):c.1301C>T (p.Ala434Val) rs2503033713
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala) rs63749925
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys) rs1594998354
NM_000021.4(PSEN1):c.336G>T (p.Gln112His)
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) rs63749805
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000021.4(PSEN1):c.416T>A (p.Met139Lys)
NM_000021.4(PSEN1):c.437T>C (p.Met146Thr)
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del) rs2502921178
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg) rs267606983
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) rs63751024
NM_000021.4(PSEN1):c.722T>C (p.Leu241Pro)
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser) rs121917807
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000021.4(PSEN1):c.832A>G (p.Arg278Gly) rs2502958678
NM_000021.4(PSEN1):c.844C>T (p.Leu282Phe)
NM_000021.4(PSEN1):c.871A>C (p.Thr291Pro) rs63750298

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