ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance for Hereditary nonpolyposis colorectal cancer type 4

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Total variants: 143
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HGVS dbSNP
NM_000535.6(PMS2):c.-101A>G rs587779325
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu) rs1583323711
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp) rs530105089
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly) rs1554297553
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.163+4A>G rs864622749
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro) rs1247571278
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg) rs1554297277
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.2174+9G>T
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2275+11A>T
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894
NM_000535.7(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro) rs1583403496
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000535.7(PMS2):c.636G>A (p.Gln212=)
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
NM_000535.7(PMS2):c.825A>T (p.Gln275His) rs876659736
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.948C>A (p.His316Gln) rs1219573982
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.988+11T>C rs139969671
NM_001322007.1(PMS2):c.-261T>A rs765248325

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