ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512 0.00035
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216 0.00011
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330 0.00006
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801 0.00006
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile) rs370612538 0.00005
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015 0.00005
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382 0.00004
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln) rs372539944 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044 0.00004
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys) rs587780051 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736 0.00003
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534 0.00003
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln) rs63751230 0.00003
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe) rs748927376 0.00003
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484 0.00002
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500 0.00002
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586 0.00002
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp) rs539285592 0.00002
NM_000535.7(PMS2):c.2174+6T>C rs587780050 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000535.7(PMS2):c.23+7G>C rs878854047 0.00002
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) rs786204133 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323 0.00001
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu) rs370066853 0.00001
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser) rs730881911 0.00001
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys) rs1243063129 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175 0.00001
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala) rs1339878885 0.00001
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291 0.00001
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602 0.00001
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390 0.00001
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser) rs370455197 0.00001
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733 0.00001
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala) rs758018736 0.00001
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala) rs1404270894 0.00001
NM_000535.7(PMS2):c.2007-9T>C rs1194759833 0.00001
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr) rs587782553 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2175-9G>A rs1057522324 0.00001
NM_000535.7(PMS2):c.2175A>G (p.Ala725=) rs769116749 0.00001
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu) rs377259633 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn) rs547715146 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser) rs754191682 0.00001
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828 0.00001
NM_000535.7(PMS2):c.251-9C>G rs1064793639 0.00001
NM_000535.7(PMS2):c.2526C>G (p.Asn842Lys) rs755478893 0.00001
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn) rs1395998044 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.353+3G>A rs766373982 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423 0.00001
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884 0.00001
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908 0.00001
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg) rs1173245928 0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr) rs1259974071 0.00001
NM_000535.7(PMS2):c.803+9A>G rs1784516917 0.00001
NM_000535.7(PMS2):c.804-15A>G rs1448706115 0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981 0.00001
NM_000535.7(PMS2):c.934A>G (p.Met312Val) rs786202567 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389 0.00001
NC_000007.13:g.(6018328_6022454)_(6048681_?)dup
NC_000007.13:g.(6022623_6026521)_(6026546_6026958)dup
NC_000007.13:g.(?_6010555)_(6027252_6029430)dup
NC_000007.13:g.(?_6010555)_(6048738_?)dup
NM_000535.6(PMS2):c.2175-?_2445+?del
NM_000535.6(PMS2):c.904-?_988+?dup
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.-1C>T rs369681753
NM_000535.7(PMS2):c.-3T>G
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1098T>G (p.Asp366Glu)
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del) rs1583334101
NM_000535.7(PMS2):c.1145-17delinsGGAG rs1562637330
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu) rs138387687
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu) rs1060503132
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro) rs747495075
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu) rs1562635229
NM_000535.7(PMS2):c.1294A>G (p.Asn432Asp) rs1783144549
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly) rs1583321782
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn) rs755665894
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala) rs373917897
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val) rs1562629531
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg) rs771892867
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val) rs1782931972
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg) rs1562624877
NM_000535.7(PMS2):c.2006+67del rs1159879425
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu) rs1562616167
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2039G>C (p.Gly680Ala)
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu) rs1554295859
NM_000535.7(PMS2):c.2092G>A (p.Val698Met) rs751551006
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2112C>A (p.Asp704Glu) rs764735061
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2165G>A (p.Arg722Lys)
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met) rs1562614497
NM_000535.7(PMS2):c.2175-65_2175-61del rs1417472000
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val) rs1554294503
NM_000535.7(PMS2):c.2212G>C (p.Val738Leu) rs758225108
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr) rs1554294462
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2275+8A>G rs878854046
NM_000535.7(PMS2):c.2276-4T>C rs1562602173
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile) rs201914670
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly) rs587781489
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile) rs766565506
NM_000535.7(PMS2):c.2378G>T (p.Ser793Ile)
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile) rs786203096
NM_000535.7(PMS2):c.2445+9A>G rs1562600132
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000535.7(PMS2):c.2446-5C>G rs864622279
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly) rs2128658992
NM_000535.7(PMS2):c.2475C>T (p.Ser825=) rs776460258
NM_000535.7(PMS2):c.250+5G>C rs1458809226
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.2541G>T (p.Arg847Ser) rs2128657332
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu) rs1554304717
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu) rs1291217267
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn) rs1785218841
NM_000535.7(PMS2):c.524G>T (p.Arg175Met) rs1562688735
NM_000535.7(PMS2):c.538-12dup rs1455766004
NM_000535.7(PMS2):c.566A>C (p.His189Pro) rs876660330
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr) rs2128801302
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser) rs878854055
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile) rs769967916
NM_000535.7(PMS2):c.683G>T (p.Gly228Val) rs1554302319
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.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu) rs1562671039
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
NM_000535.7(PMS2):c.774_777delinsA (p.Ser258_Cys259delinsArg)
NM_000535.7(PMS2):c.774_778delinsTA (p.Cys259_Ser260delinsThr) rs1784525754
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
NM_000535.7(PMS2):c.792T>A (p.His264Gln) rs1554301398
NM_000535.7(PMS2):c.803+7A>G rs1562669544
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg) rs546966892
NM_000535.7(PMS2):c.830C>T (p.Thr277Met) rs1805322
NM_000535.7(PMS2):c.833A>G (p.His278Arg) rs1562664434
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu) rs771787834
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser) rs1031512870
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe) rs372172981
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.989-8dup rs1333503820
NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]

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