ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
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.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln) rs371682056 0.00007
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801 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.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.1828A>G (p.Lys610Glu) rs199700509 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys) rs587780051 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534 0.00003
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 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.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser) rs375553553 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.1048C>T (p.Leu350Phe) rs587782875 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp) rs1402531091 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr) rs777470381 0.00002
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833 0.00002
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu) rs757409701 0.00002
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys) rs182085259 0.00002
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly) rs761913816 0.00002
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323 0.00001
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918 0.00001
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly) rs748971523 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln) rs778482303 0.00001
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175 0.00001
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn) rs148642064 0.00001
NM_000535.7(PMS2):c.14A>T (p.Glu5Val) rs876659080 0.00001
NM_000535.7(PMS2):c.163+4A>G rs864622749 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 0.00001
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys) rs773109986 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr) rs587782553 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly) rs1284646352 0.00001
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala) rs1060503115 0.00001
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr) rs762206330 0.00001
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053 0.00001
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly) rs745500014 0.00001
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe) rs191300933 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.2396G>A (p.Arg799Gln) rs587780055 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.2414A>G (p.Gln805Arg) rs967502389 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665 0.00001
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828 0.00001
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr) rs751799116 0.00001
NM_000535.7(PMS2):c.353+4A>G rs760538709 0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380 0.00001
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423 0.00001
NM_000535.7(PMS2):c.452G>A (p.Arg151His) rs35629870 0.00001
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206 0.00001
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile) rs750354871 0.00001
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg) rs1554303922 0.00001
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.596G>A (p.Arg199His) rs876658387 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000535.7(PMS2):c.667A>G (p.Ile223Val) rs876660067 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.791A>G (p.His264Arg) rs1060503129 0.00001
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln) rs369763423 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.913C>G (p.Leu305Val) rs750420143 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.1114G>A (p.Val372Ile) rs1554298669
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro) rs1583334040
NM_000535.7(PMS2):c.1145-5C>G
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu) rs1554298036
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys) rs1554297981
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu) rs778482303
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr) rs148956636
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn) rs1583319965
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.146C>G (p.Ala49Gly) rs786203255
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser) rs1583418387
NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys) rs1583318261
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala) rs1060503112
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser) rs864622096
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys) rs786203075
NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr) rs786203095
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val) rs1320079782
NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg) rs1583299418
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala) rs772637411
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro) rs1246922900
NM_000535.7(PMS2):c.2174+6T>A rs587780050
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala) rs587781958
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2314A>G (p.Thr772Ala)
NM_000535.7(PMS2):c.2315C>T (p.Thr772Ile) rs1781849852
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly) rs2128829529
NM_000535.7(PMS2):c.2365A>G (p.Met789Val) rs377259633
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg) rs876659030
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)
NM_000535.7(PMS2):c.250+4A>G rs1554304934
NM_000535.7(PMS2):c.2509A>G (p.Met837Val)
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro) rs1554304938
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr) rs754350493
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro) rs574371474
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys) rs770678468
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile) rs786202835
NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.449C>G (p.Pro150Arg) rs778119115
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly) rs758561884
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro) rs35629870
NM_000535.7(PMS2):c.538-4A>G
NM_000535.7(PMS2):c.55G>C (p.Asp19His) rs1554306568
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly) rs1554306564
NM_000535.7(PMS2):c.572A>C (p.Tyr191Ser) rs375289386
NM_000535.7(PMS2):c.580A>G (p.Ile194Val) rs1554302492
NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)
NM_000535.7(PMS2):c.615G>C (p.Gln205His) rs752499497
NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg) rs878854055
NM_000535.7(PMS2):c.688G>A (p.Val230Met) rs1562677528
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
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.722C>T (p.Pro241Leu) rs1554301523
NM_000535.7(PMS2):c.75G>C (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp) rs1554301463
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.803+3A>T
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala) rs587781908
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu) rs587782833
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe) rs587781281
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) rs1562663421
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu) rs375507981
NM_000535.7(PMS2):c.91G>T (p.Val31Leu) rs786203763
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
NM_000535.7(PMS2):c.948C>A (p.His316Gln) rs1219573982
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser) rs1248142939

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