ClinVar Miner

List of variants in gene PSEN1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 223
Download table as spreadsheet
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.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
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_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_000021.4(PSEN1):c.*2580C>T rs117394753 0.00305
NM_000021.4(PSEN1):c.*672G>A rs192897390 0.00225
NM_000021.4(PSEN1):c.*3495A>G rs141799841 0.00220
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
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.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.1214A>G (p.Asn405Ser) rs63751254
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.1318_1320del (p.Thr440del) rs63750470
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.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.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>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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.