ClinVar Miner

List of variants in gene PSEN1 reported as uncertain significance for Pick disease

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00013
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly) rs140189461 0.00006
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp) rs746691776 0.00004
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys) rs556147068 0.00004
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg) rs115865530 0.00004
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992 0.00003
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val) rs199842082 0.00002
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly) rs1018763711 0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) rs1398951357 0.00001
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp) rs777427451 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 0.00001
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln) rs200646139 0.00001
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala) rs771002035 0.00001
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val) rs747363386 0.00001
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile) rs750585566 0.00001
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu) rs201375628 0.00001
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977 0.00001
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389 0.00001
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=) rs995701621 0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000021.4(PSEN1):c.808A>G (p.Met270Val) rs114317083 0.00001
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met) rs114378630 0.00001
NM_000021.4(PSEN1):c.869-3C>A rs2140125016 0.00001
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala) rs63750298 0.00001
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu) rs147638016 0.00001
NC_000014.8:g.(?_73683814)_(73685997_?)dup
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg) rs138871096
NM_000021.4(PSEN1):c.1051C>T (p.His351Tyr)
NM_000021.4(PSEN1):c.1060A>G (p.Thr354Ala)
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu) rs1019919048
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln) rs996227958
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe) rs63750941
NM_000021.4(PSEN1):c.1132G>A (p.Gly378Arg) rs2503026431
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val) rs2503026566
NM_000021.4(PSEN1):c.1181G>A (p.Gly394Asp)
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile) rs2503026845
NM_000021.4(PSEN1):c.118_120del (p.Asp40del) rs759538127
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr) rs906454643
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser) rs997923176
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val) rs777734426
NM_000021.4(PSEN1):c.1249-6C>A rs1412956650
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala) rs63749925
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn) rs1900050658
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.1388A>G (p.His463Arg)
NM_000021.4(PSEN1):c.221C>G (p.Thr74Arg)
NM_000021.4(PSEN1):c.235G>A (p.Ala79Thr)
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu) rs2503063150
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr) rs1897874234
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser) rs1007193620
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly) rs2503063539
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val) rs2503075363
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln) rs63750378
NM_000021.4(PSEN1):c.392A>G (p.His131Arg) rs1555353072
NM_000021.4(PSEN1):c.395C>T (p.Ser132Leu)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.421A>G (p.Ser141Gly)
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) rs1566630910
NM_000021.4(PSEN1):c.442A>C (p.Ile148Leu)
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His) rs2503076413
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.47T>G (p.Met16Arg)
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile) rs1898533490
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) rs1898533739
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp) rs1555354560
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del) rs2502921178
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr) rs63750577
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys) rs2502939709
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr) rs2140093212
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys) rs1898776259
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu) rs199842082
NM_000021.4(PSEN1):c.73A>G (p.Thr25Ala)
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet) rs2502958496
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr) rs1899028511
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.836A>T (p.Asn279Ile)
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile) rs1332096103
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser) rs778244504
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000021.4(PSEN1):c.918A>C (p.Gln306His) rs1256981707
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys) rs763180479
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys) rs2140125296

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