ClinVar Miner

List of variants in gene PSEN2 studied for not provided

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Gene type:
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Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000447.3(PSEN2):c.1073-86A>G rs10753428 0.76283
NM_000447.3(PSEN2):c.1191+24G>A rs2855562 0.54855
NM_000447.3(PSEN2):c.*270C>T rs8383 0.49189
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240 0.48653
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_000447.3(PSEN2):c.142-42G>A rs1295643 0.48629
NM_000447.3(PSEN2):c.887-258T>A rs2236914 0.48330
NM_000447.3(PSEN2):c.970+160C>G rs2236915 0.48328
NM_000447.3(PSEN2):c.1191+279G>C rs3829979 0.20590
NM_000447.3(PSEN2):c.356+146T>C rs35519961 0.20497
NM_000447.3(PSEN2):c.1072+276G>A rs12123818 0.20266
NM_000447.3(PSEN2):c.1072+155C>T rs12130732 0.18900
NM_000447.3(PSEN2):c.-275C>T rs1295645 0.15570
NM_000447.3(PSEN2):c.356+50A>G rs767091693 0.14162
NM_000447.3(PSEN2):c.566+125G>A rs1800680 0.12322
NM_000447.3(PSEN2):c.971-143G>C rs7537037 0.05256
NM_000447.3(PSEN2):c.1072+169C>G rs75612539 0.05251
NM_000447.3(PSEN2):c.787+66C>A rs7539119 0.04059
NM_000447.3(PSEN2):c.566+201A>G rs79822981 0.03574
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553 0.03334
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_000447.3(PSEN2):c.886+233C>T rs11804915 0.02502
NM_000447.3(PSEN2):c.788-90G>C rs113061270 0.02380
NM_000447.3(PSEN2):c.142-23C>T rs59683545 0.01713
NM_000447.3(PSEN2):c.566+80C>T rs1800679 0.01580
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01404
NM_000447.3(PSEN2):c.1072+128C>T rs114127255 0.01359
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01358
NM_000447.3(PSEN2):c.566+57G>A rs111910427 0.01352
NM_000447.3(PSEN2):c.499-121G>A rs114816603 0.01182
NM_000447.3(PSEN2):c.1191+104C>T rs115236371 0.01058
NM_000447.3(PSEN2):c.1072+98G>A rs116635380 0.01057
NM_000447.3(PSEN2):c.141+58A>G rs116171245 0.01038
NM_000447.3(PSEN2):c.566+61A>G rs149734051 0.01037
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00649
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_000447.3(PSEN2):c.141+30A>G rs76655190 0.00120
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00092
NM_000447.3(PSEN2):c.*306G>A rs145129440 0.00086
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) rs150400387 0.00029
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000447.3(PSEN2):c.-349-115A>G rs556146007 0.00016
NC_000001.11:g.226917609G>A rs761534647 0.00015
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) rs574125890 0.00015
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) rs148238688 0.00014
NM_000447.3(PSEN2):c.165C>T (p.Asp55=) rs139332886 0.00013
NM_000447.3(PSEN2):c.207C>T (p.Pro69=) rs142546082 0.00013
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00012
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00006
NM_000447.3(PSEN2):c.1092C>T (p.Leu364=) rs201093218 0.00005
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000447.3(PSEN2):c.84G>A (p.Pro28=) rs371475270 0.00004
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) rs142892469 0.00004
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000447.3(PSEN2):c.1029C>T (p.Pro343=) rs760977533 0.00002
NM_000447.3(PSEN2):c.1160C>T (p.Thr387Ile) rs867544084 0.00002
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666 0.00002
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) rs144277432 0.00002
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207 0.00001
NM_000447.3(PSEN2):c.236T>C (p.Leu79Pro) rs760961297 0.00001
NM_000447.3(PSEN2):c.249C>T (p.Tyr83=) rs549378958 0.00001
NM_000447.3(PSEN2):c.414C>T (p.Ser138=) rs747738607 0.00001
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile) rs63750812 0.00001
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) rs866044092 0.00001
NM_000447.3(PSEN2):c.49C>T (p.Arg17Trp) rs199644116 0.00001
NM_000447.3(PSEN2):c.506A>G (p.His169Arg) rs1661490243 0.00001
NM_000447.3(PSEN2):c.507T>C (p.His169=) rs984047270 0.00001
NM_000447.3(PSEN2):c.665A>C (p.Lys222Thr) rs1163620977 0.00001
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu) rs63750880 0.00001
NM_000447.3(PSEN2):c.710C>T (p.Ala237Val) rs200670135 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000447.3(PSEN2):c.855T>C (p.Asn285=) rs1331955964 0.00001
NM_000447.3(PSEN2):c.89C>T (p.Ser30Phe) rs200037771 0.00001
GRCh37/hg19 1q42.13(chr1:227013682-227122231)x3
NC_000001.11:g.226917519T>A
NM_000447.3(PSEN2):c.1024C>T (p.Pro342Ser)
NM_000447.3(PSEN2):c.1077C>G (p.Gly359=) rs753503617
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) rs143912759
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met) rs143912759
NM_000447.3(PSEN2):c.1164G>A (p.Thr388=)
NM_000447.3(PSEN2):c.1197G>T (p.Leu399Phe) rs1662076227
NM_000447.3(PSEN2):c.120T>C (p.Asp40=) rs1571948047
NM_000447.3(PSEN2):c.142-29T>C rs1295644
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.219A>C (p.Pro73=) rs772372158
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe) rs1405799988
NM_000447.3(PSEN2):c.245A>C (p.Lys82Thr) rs1165738559
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.25A>G (p.Ser9Gly) rs786205285
NM_000447.3(PSEN2):c.292_293del (p.Cys98fs) rs2527952323
NM_000447.3(PSEN2):c.307G>A (p.Val103Ile) rs2102672806
NM_000447.3(PSEN2):c.314C>T (p.Thr105Ile) rs1571951561
NM_000447.3(PSEN2):c.31del (p.Glu11fs) rs2102667828
NM_000447.3(PSEN2):c.356+83A>C rs12057618
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) rs28936380
NM_000447.3(PSEN2):c.368C>T (p.Pro123Leu) rs2527962854
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.498+30G>C rs2236910
NM_000447.3(PSEN2):c.50G>A (p.Arg17Gln)
NM_000447.3(PSEN2):c.606C>G (p.Pro202=) rs1027532388
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000447.3(PSEN2):c.787+205C>T rs7539221
NM_000447.3(PSEN2):c.787+245del rs58663378
NM_000447.3(PSEN2):c.787+245dup rs58663378
NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly) rs1208742830
NM_000447.3(PSEN2):c.887-24T>C rs2802267
NM_000447.3(PSEN2):c.904G>T (p.Val302Phe) rs2527994750
NM_000447.3(PSEN2):c.926C>A (p.Pro309His) rs2527994901
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
NM_000447.3(PSEN2):c.970+3_970+6del rs775692311

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