ClinVar Miner

List of variants in gene PSEN1 studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.480+223A>G rs214269 0.74864
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000021.4(PSEN1):c.869-263C>A rs165934 0.61331
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_000021.4(PSEN1):c.*3722C>T rs362344 0.24215
NM_000021.4(PSEN1):c.*947G>A rs7523 0.14277
NM_000021.4(PSEN1):c.1129+225A>G rs28660183 0.13213
NM_000021.4(PSEN1):c.1130-193G>T rs2272585 0.11735
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_000021.4(PSEN1):c.956-264G>A rs362377 0.09907
NM_000021.4(PSEN1):c.338+206T>C rs362355 0.08573
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NM_000021.4(PSEN1):c.1129+151T>C rs867230071 0.06588
NC_000014.9:g.73136423C>T rs1800839 0.05747
NM_000021.4(PSEN1):c.*2864A>C rs362389 0.05717
NM_000021.4(PSEN1):c.955+200T>C rs362374 0.03945
NM_000021.4(PSEN1):c.770-21T>C rs3025786 0.03618
NM_000021.4(PSEN1):c.*364T>C rs362385 0.03451
NM_000021.4(PSEN1):c.548+212A>T rs77983620 0.03109
NM_000021.4(PSEN1):c.480+144C>T rs72734456 0.02983
NM_000021.4(PSEN1):c.*3889G>A rs17125952 0.02429
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000021.4(PSEN1):c.339-245A>G rs80331025 0.00979
NM_000021.4(PSEN1):c.*1381G>A rs362387 0.00765
NM_000021.4(PSEN1):c.*3566A>G rs74061007 0.00746
NM_000021.4(PSEN1):c.*3358A>G rs74061006 0.00741
NC_000014.9:g.73136191C>G rs34086577 0.00339
NM_000021.4(PSEN1):c.*2580C>T rs117394753 0.00305
NM_000021.4(PSEN1):c.*4030A>G rs186752250 0.00283
NM_000021.4(PSEN1):c.*672G>A rs192897390 0.00225
NM_000021.4(PSEN1):c.*3495A>G rs141799841 0.00220
NC_000014.9:g.73133653A>G rs562520783 0.00096
NM_000021.4(PSEN1):c.*230G>T rs200692223 0.00049
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000021.4(PSEN1):c.96T>C (p.Asn32=) rs201759335 0.00006
NM_000021.4(PSEN1):c.1073G>A (p.Arg358Gln) rs63751174 0.00004
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000021.4(PSEN1):c.1234G>A (p.Val412Ile) rs200525059 0.00002
NM_000021.4(PSEN1):c.1263A>G (p.Thr421=) rs759120634 0.00002
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup) rs63750762 0.00001
NM_000021.4(PSEN1):c.1061C>T (p.Thr354Ile) rs63751164 0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249 0.00001
NM_000021.4(PSEN1):c.1357G>A (p.Val453Ile) rs1064797190 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 0.00001
NM_000021.4(PSEN1):c.367G>A (p.Glu123Lys) rs63750378 0.00001
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1094C>A (p.Ser365Tyr) rs63750941
NM_000021.4(PSEN1):c.1129+113T>C
NM_000021.4(PSEN1):c.1130G>T (p.Arg377Met) rs63751051
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu) rs63750323
NM_000021.4(PSEN1):c.1133G>T (p.Gly378Val) rs63750323
NM_000021.4(PSEN1):c.1141C>A (p.Leu381Ile) rs63750687
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) rs63750687
NM_000021.4(PSEN1):c.1151G>C (p.Gly384Ala) rs63750646
NM_000021.4(PSEN1):c.1157T>C (p.Phe386Ser) rs63749860
NM_000021.4(PSEN1):c.1158C>A (p.Phe386Leu) rs1555358095
NM_000021.4(PSEN1):c.1169G>T (p.Ser390Ile) rs63750883
NM_000021.4(PSEN1):c.1171G>T (p.Val391Phe) rs63751066
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) rs63751416
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) rs63750218
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val) rs63750929
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.118_120del (p.Asp40del) rs759538127
NM_000021.4(PSEN1):c.1214A>G (p.Asn405Ser) rs63751254
NM_000021.4(PSEN1):c.121A>G (p.Arg41Gly)
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1254G>T (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.1259T>G (p.Leu420Arg) rs63750802
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) rs1555358260
NM_000021.4(PSEN1):c.1271T>G (p.Leu424Arg) rs63751032
NM_000021.4(PSEN1):c.1272C>G (p.Leu424=)
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1303C>G (p.Leu435Val) rs63750001
NM_000021.4(PSEN1):c.1303C>T (p.Leu435Phe) rs63750001
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) rs63749925
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.1309A>T (p.Ile437Phe)
NM_000021.4(PSEN1):c.1318_1320del (p.Thr440del) rs63750470
NM_000021.4(PSEN1):c.1333T>G (p.Phe445Val)
NM_000021.4(PSEN1):c.221C>T (p.Thr74Ile) rs2140036934
NM_000021.4(PSEN1):c.244G>C (p.Val82Leu) rs63749967
NM_000021.4(PSEN1):c.247_252del (p.Ile83_Met84del) rs63750307
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.255C>G (p.Leu85=)
NM_000021.4(PSEN1):c.263C>T (p.Pro88Leu) rs1897874329
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) rs63750815
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) rs63751141
NM_000021.4(PSEN1):c.286G>T (p.Val96Phe) rs63750601
NM_000021.4(PSEN1):c.289G>T (p.Val97Leu) rs63750852
NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile) rs63750325
NM_000021.4(PSEN1):c.315T>G (p.Phe105Leu) rs63750321
NM_000021.4(PSEN1):c.322C>T (p.Arg108Trp) rs200576075
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.343T>G (p.Tyr115Asp) rs63749962
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) rs63750730
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser) rs63750550
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) rs63749805
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) rs63751272
NM_000021.4(PSEN1):c.389T>C (p.Leu130Pro) rs1566630838
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.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.416T>C (p.Met139Thr) rs63751106
NM_000021.4(PSEN1):c.417G>A (p.Met139Ile) rs63750522
NM_000021.4(PSEN1):c.427A>T (p.Ile143Phe) rs63750322
NM_000021.4(PSEN1):c.427_429del (p.Ile143del) rs773231702
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.429T>G (p.Ile143Met) rs63751071
NM_000021.4(PSEN1):c.42A>C (p.Ala14=)
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.440C>T (p.Thr147Ile) rs63750907
NM_000021.4(PSEN1):c.457C>G (p.Leu153Val) rs63751441
NM_000021.4(PSEN1):c.460T>A (p.Tyr154Asn) rs63750588
NM_000021.4(PSEN1):c.461A>G (p.Tyr154Cys) rs63751292
NM_000021.4(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle) rs63750631
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.480+42C>T
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) rs1898533739
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) rs63749885
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.491C>T (p.Ala164Val) rs1555354560
NM_000021.4(PSEN1):c.493T>G (p.Trp165Gly) rs63751010
NM_000021.4(PSEN1):c.494G>T (p.Trp165Leu) rs1898534725
NM_000021.4(PSEN1):c.495G>C (p.Trp165Cys) rs63751484
NM_000021.4(PSEN1):c.496C>T (p.Leu166Phe)
NM_000021.4(PSEN1):c.496_498del (p.Leu166del) rs63751458
NM_000021.4(PSEN1):c.497T>G (p.Leu166Arg) rs63750265
NM_000021.4(PSEN1):c.498TAT[1] (p.Ile168del) rs63750879
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) rs63750418
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu) rs63751210
NM_000021.4(PSEN1):c.508T>C (p.Ser170Pro)
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro) rs63750963
NM_000021.4(PSEN1):c.518T>G (p.Leu173Trp) rs63750299
NM_000021.4(PSEN1):c.519G>T (p.Leu173Phe)
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
NM_000021.4(PSEN1):c.520_522del (p.Leu174del) rs2140080563
NM_000021.4(PSEN1):c.521T>G (p.Leu174Arg) rs63751025
NM_000021.4(PSEN1):c.524T>C (p.Phe175Ser) rs63750771
NM_000021.4(PSEN1):c.525C>G (p.Phe175Leu) rs1566638724
NM_000021.4(PSEN1):c.529T>C (p.Phe177Leu) rs63749911
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser) rs63749806
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) rs63750311
NM_000021.4(PSEN1):c.616G>A (p.Gly206Ser) rs63750569
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) rs63750082
NM_000021.4(PSEN1):c.625G>A (p.Gly209Arg) rs63749880
NM_000021.4(PSEN1):c.625G>C (p.Gly209Arg) rs63749880
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.637A>T (p.Ile213Phe) rs63750861
NM_000021.4(PSEN1):c.638T>C (p.Ile213Thr) rs63751309
NM_000021.4(PSEN1):c.63C>T (p.His21=) rs1594964688
NM_000021.4(PSEN1):c.640C>A (p.His214Asn) rs63751003
NM_000021.4(PSEN1):c.640C>T (p.His214Tyr) rs63751003
NM_000021.4(PSEN1):c.643T>C (p.Trp215Arg) rs1064797189
NM_000021.4(PSEN1):c.650G>A (p.Gly217Asp) rs63750444
NM_000021.4(PSEN1):c.655C>T (p.Leu219Phe) rs63749987
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) rs63750761
NM_000021.4(PSEN1):c.665A>G (p.Gln222Arg) rs63750009
NM_000021.4(PSEN1):c.666G>C (p.Gln222His) rs63751072
NM_000021.4(PSEN1):c.676C>T (p.Leu226Phe) rs63750487
NM_000021.4(PSEN1):c.677T>G (p.Leu226Arg) rs63749961
NM_000021.4(PSEN1):c.685A>T (p.Ile229Phe) rs63749970
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.692C>T (p.Ala231Val) rs63750799
NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.697A>T (p.Met233Leu) rs63751287
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) rs63751024
NM_000021.4(PSEN1):c.699G>C (p.Met233Ile) rs63751479
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000021.4(PSEN1):c.704T>C (p.Leu235Pro) rs63749835
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.715A>G (p.Lys239Glu) rs1595035012
NM_000021.4(PSEN1):c.733A>C (p.Thr245Pro) rs63750888
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000021.4(PSEN1):c.748T>G (p.Leu250Val) rs63750634
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) rs63751163
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) rs63751320
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val) rs63751420
NM_000021.4(PSEN1):c.781G>T (p.Val261Phe) 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.787T>C (p.Cys263Arg) rs63750543
NM_000021.4(PSEN1):c.788G>T (p.Cys263Phe) rs63751102
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
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.805C>G (p.Arg269Gly) rs63751019
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) rs63750886
NM_000021.4(PSEN1):c.815T>C (p.Val272Ala) rs63750680
NM_000021.4(PSEN1):c.818A>C (p.Glu273Ala) rs63750772
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.834A>C (p.Arg278Ser) rs63750524
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.844C>G (p.Leu282Val) rs63749937
NM_000021.4(PSEN1):c.845T>G (p.Leu282Arg) rs63750050
NM_000021.4(PSEN1):c.849T>G (p.Phe283Leu)
NM_000021.4(PSEN1):c.850C>T (p.Pro284Ser) rs63750324
NM_000021.4(PSEN1):c.851C>T (p.Pro284Leu) rs63750863
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val) rs63751139
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000021.4(PSEN1):c.869-1624_956-2453del
NM_000021.4(PSEN1):c.869-1G>T rs63750219
NM_000021.4(PSEN1):c.869-2000_956-1526del
NM_000021.4(PSEN1):c.87+252G>A rs34623110
NM_000021.4(PSEN1):c.871A>C (p.Thr291Pro) rs63750298
NM_000021.4(PSEN1):c.88-2A>G rs2140036261
NM_000021.4(PSEN1):c.935A>C (p.Asn312Thr)
NM_000021.4(PSEN1):c.956-217_956-216insA

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