ClinVar Miner

List of variants in gene PMS2 studied for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 476
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HGVS dbSNP
NC_000007.13:g.(?_6031604)_(6038906_?)del
NC_000007.13:g.(?_6031604)_(6042267_?)del
NC_000007.13:g.(?_6031604)_(6045662_?)del
NC_000007.13:g.(?_6031604)_(6048737_?)del
NC_000007.13:g.(?_6036957)_(6043689_?)del
NC_000007.13:g.(?_6043321)_(6043689_?)del
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
NM_000535.5(PMS2):c.1145-1350_*20545del
NM_000535.5(PMS2):c.164-518_803+252delinsCG
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
NM_000535.5:c.2276-?_2589+?del
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
NM_000535.6(PMS2):c.(?_-87)_1144+?del
NM_000535.6(PMS2):c.(?_-87)_23+?del
NM_000535.6(PMS2):c.(?_989)-5_(2445_?)+5del
NM_000535.6(PMS2):c.-101A>G rs587779325
NM_000535.6(PMS2):c.-154C>G rs3735296
NM_000535.6(PMS2):c.-195T>C rs2302336
NM_000535.6(PMS2):c.-87_537+?del
NM_000535.6(PMS2):c.-93G>A rs6976537
NM_000535.6(PMS2):c.-93G>T rs6976537
NM_000535.6(PMS2):c.1145-?_2174+?del
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.1145-?_2445+?del
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
NM_000535.6(PMS2):c.164-?_2006+?del
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.6(PMS2):c.2276-?_*160+?del
NM_000535.6(PMS2):c.2276-?_2445+?del
NM_000535.6(PMS2):c.24-?_163+?del
NM_000535.6(PMS2):c.354-?_*(160_?)del
NM_000535.6(PMS2):c.354-?_803+?del
NM_000535.6(PMS2):c.538-?_903+?del
NM_000535.6(PMS2):c.706-?_803+?del
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.6(PMS2):c.804-?_2006+?del
NM_000535.6(PMS2):c.804-?_903+?del
NM_000535.6(PMS2):c.904-?_*(160_?)del
NM_000535.6(PMS2):c.904-?_1144+?del
NM_000535.6(PMS2):c.904-?_988+?del
NM_000535.6(PMS2):c.989-?_*(160_?)del
NM_000535.6(PMS2):c.989-?_1144+?del
NM_000535.7(PMS2):c.*107A>G rs148520351
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.*92dup rs267608145
NM_000535.7(PMS2):c.-13G>C rs747488315
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.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1047G>A (p.Lys349=)
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe) rs1060503145
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1117A>G (p.Ser373Gly) rs1060503125
NM_000535.7(PMS2):c.1119T>G (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248
NM_000535.7(PMS2):c.1144+1G>A rs373885654
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1144+5del rs878854032
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys) rs1562637166
NM_000535.7(PMS2):c.1171G>C (p.Asp391His) rs1064795020
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
NM_000535.7(PMS2):c.1185del (p.Met396fs) rs786204104
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.121G>T (p.Glu41Ter) rs3209663
NM_000535.7(PMS2):c.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly) rs1562701448
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
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.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln) rs778482303
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln) rs786202669
NM_000535.7(PMS2):c.1312A>C (p.Lys438Gln) rs878854033
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly) rs1562634610
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer) rs1562633331
NM_000535.7(PMS2):c.1343G>A (p.Gly448Glu) rs1060503118
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr) rs1554306353
NM_000535.7(PMS2):c.1351del (p.Arg451fs) rs1562634268
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1354G>T (p.Gly452Cys) rs569947936
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr) rs1060503130
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile) rs755348833
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln) rs1060503135
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1423G>A (p.Val475Met) rs864622579
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
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.1488C>T (p.His496=) rs1805320
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
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.1557T>C (p.Tyr519=) rs6972869
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1578C>G (p.Asp526Glu) rs63750236
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter) rs878854037
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+4A>G rs864622749
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139
NM_000535.7(PMS2):c.1632_1633CT[1] (p.Ser545fs) rs753256070
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)
NM_000535.7(PMS2):c.164-108G>C rs12538294
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.164-6T>C rs1060504837
NM_000535.7(PMS2):c.1654C>A (p.His552Asn) rs786204114
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) 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.1702C>T (p.Pro568Ser) rs786204115
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1712T>A (p.Leu571His) rs1060503128
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
NM_000535.7(PMS2):c.1726A>T (p.Thr576Ser) rs863224677
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1750dup (p.Ile584fs) rs864622600
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.7(PMS2):c.1768del (p.Ile590fs) rs63750477
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val) rs878854039
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.182del (p.Tyr61fs) rs63750793
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1850C>T (p.Pro617Leu) rs747785888
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1903G>A (p.Glu635Lys) rs878854040
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter) rs764342199
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1920A>G (p.Glu640=) rs1060503113
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
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.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2007-7C>T rs55954143
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286
NM_000535.7(PMS2):c.2043G>T (p.Gln681His) rs876658953
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser) rs1562615666
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly) rs878854043
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu) rs199943748
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.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2171T>C (p.Ile724Thr) rs1060503123
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu) rs876658439
NM_000535.7(PMS2):c.217_218TG[3] (p.Gly74fs) rs587779336
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2184del (p.Leu729fs) rs1554294505
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) rs1554294448
NM_000535.7(PMS2):c.2239_2242AGAA[1] (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.2245A>G (p.Asn749Asp) rs878854045
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.2276-113_2445+1596del
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.2276-91_2445+790del
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser) rs763468927
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser) rs777728316
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
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.2361_2364del (p.Phe788fs) rs267608160
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.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143
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.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del) rs1554292684
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu) rs1060503140
NM_000535.7(PMS2):c.2458dup (p.Thr820fs) rs1554292880
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2469C>T (p.Asn823=) rs878854048
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.250+8G>A rs1057520511
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.251-11C>G rs761795058
NM_000535.7(PMS2):c.251-2A>G rs587779340
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.251-72A>G rs117831773
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.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs) rs1064792975
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu) rs878854049
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg) rs747771951
NM_000535.7(PMS2):c.29A>C (p.Glu10Ala) rs878854050
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907
NM_000535.7(PMS2):c.331C>G (p.Leu111Val) rs864622232
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile) rs1394474494
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.354-7C>T rs758471869
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.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
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.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.409T>G (p.Phe137Val) rs1060503141
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)
NM_000535.7(PMS2):c.43A>G (p.Ile15Val) rs878854051
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser) rs1060503120
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884
NM_000535.7(PMS2):c.452G>A (p.Arg151His) rs35629870
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161
NM_000535.7(PMS2):c.465C>A (p.Thr155=) rs863224369
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206
NM_000535.7(PMS2):c.471C>A (p.Val157=) rs878854052
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.475G>C (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.530T>C (p.Ile177Thr) rs769312937
NM_000535.7(PMS2):c.532_534AAG[1] (p.Lys179del) rs876661092
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+4C>G rs864622272
NM_000535.7(PMS2):c.537+4C>T rs864622272
NM_000535.7(PMS2):c.537G>A (p.Lys179=) rs864622074
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.538-223A>G rs2345060
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.538-478_705+456del
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe) rs863224681
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) rs63751029
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
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.593dup (p.Arg199fs) rs267608148
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.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro) rs10254120
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.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala) rs374704824
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.68T>G (p.Val23Gly) rs1060503114
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.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter) rs63750261
NM_000535.7(PMS2):c.705+13G>A rs776790763
NM_000535.7(PMS2):c.705+17A>G rs62456182
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+3A>G rs764334813
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-3C>T rs1229860023
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.712A>G (p.Ser238Gly) rs1060503149
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr) rs765668173
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser) rs878854058
NM_000535.7(PMS2):c.741del (p.Ser248fs)
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn) rs587780727
NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter) rs730881920
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.791A>C (p.His264Pro) rs1060503129
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.803+23A>T rs370719706
NM_000535.7(PMS2):c.804-12A>G rs1221537446
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-243G>A rs2286680
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.825A>T (p.Gln275His) rs876659736
NM_000535.7(PMS2):c.846del (p.Ser283fs) rs1057515571
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.859dup (p.Arg287fs) rs1554300763
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys) rs1060503122
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
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.873del (p.Phe291fs) rs1261282733
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.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
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.8G>A (p.Arg3Gln) rs375507981
NM_000535.7(PMS2):c.903+20_903+21del rs746861817
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
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.938A>G (p.Tyr313Cys) rs587782513
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.959T>G (p.Phe320Cys) rs1060503121
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.989-296_1144+706del
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389
NM_001322007.1(PMS2):c.-261T>A rs765248325
NM_001322007.1(PMS2):c.-263C>A rs886062402
NM_001322007.1(PMS2):c.-290T>C

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