ClinVar Miner

List of variants in gene PSEN1 reported as likely pathogenic

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Gene type:
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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
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.1156T>A (p.Phe386Ile)
NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe) rs1566656702
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.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser) rs1566657804
NM_000021.4(PSEN1):c.1301C>T (p.Ala434Val)
NM_000021.4(PSEN1):c.1303C>G (p.Leu435Val) rs63750001
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) rs63749925
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys) rs1594998354
NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly) rs1897876766
NM_000021.4(PSEN1):c.338+7A>G rs1897878139
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
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.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp) rs63750353
NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) rs1566630884
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.494G>T (p.Trp165Leu) rs1898534725
NM_000021.4(PSEN1):c.496C>T (p.Leu166Phe)
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) rs63750418
NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr) rs1566638673
NM_000021.4(PSEN1):c.519G>T (p.Leu173Phe)
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg) rs267606983
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) rs63750009
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
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.703C>G (p.Leu235Val) rs63751130
NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu) rs63750858
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) rs1555355289
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe) rs1362575880
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.781G>A (p.Val261Ile) rs63750964
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser) rs121917807
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000021.4(PSEN1):c.832A>G (p.Arg278Gly)
NM_000021.4(PSEN1):c.869-1G>A rs63750219

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