ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 343
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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.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.2382dup (p.Gly795fs) rs1231406078 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.804-2A>G rs1307026290 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.7(PMS2):c.1009dup (p.Thr337fs) rs1214597671
NM_000535.7(PMS2):c.100_112del (p.Ser34fs)
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1071del (p.Ser358fs) rs1783529876
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs) rs1583334346
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1117dup (p.Ser373fs) rs1783516106
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs) rs757679199
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter) rs1437858319
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter) rs956005905
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1146_1147dup (p.Asn383fs)
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.116del (p.Val39fs) rs1064794152
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1211del (p.Pro404fs)
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter) rs3209663
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter) rs1562635799
NM_000535.7(PMS2):c.1239del (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1281del (p.His428fs) rs1783147885
NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)
NM_000535.7(PMS2):c.1296del (p.Asn432fs)
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter) rs876661256
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs) rs1562632035
NM_000535.7(PMS2):c.1485dup (p.His496fs)
NM_000535.7(PMS2):c.1486dup (p.His496fs)
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.149del (p.Gly50fs)
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1500dup (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter) rs6972869
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1579del (p.Arg527fs) rs1554297523
NM_000535.7(PMS2):c.1583del (p.Gly528fs) rs1783042060
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs) rs2128726933
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs) rs1064795345
NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)
NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter) rs1554297342
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
NM_000535.7(PMS2):c.1716_1718delinsCAACTAAAACG (p.Thr573delinsAsnTer)
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer) rs1785429855
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1737del (p.Phe579fs) rs1782994894
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
NM_000535.7(PMS2):c.1771del (p.Cys591fs)
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter) rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter) rs1064793426
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
NM_000535.7(PMS2):c.182del (p.Tyr61fs) rs63750793
NM_000535.7(PMS2):c.1831delinsTT (p.Ile611fs)
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1845del (p.Val616fs)
NM_000535.7(PMS2):c.1855del (p.Asp619fs) rs1782958183
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs) rs756358866
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer) rs1554297164
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) rs1060503137
NM_000535.7(PMS2):c.1867del (p.Ser623fs)
NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer) rs1554297153
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1876_1880del (p.Ala626fs)
NM_000535.7(PMS2):c.1882_1886dup (p.Lys630fs)
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
NM_000535.7(PMS2):c.1908del (p.Gln637fs) rs1562626121
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1924del (p.Glu642fs) rs2128721171
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs) rs1782935566
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
NM_000535.7(PMS2):c.1933del (p.Tyr645fs)
NM_000535.7(PMS2):c.1934dup (p.Tyr645Ter)
NM_000535.7(PMS2):c.1936del (p.Arg646fs) rs1782934080
NM_000535.7(PMS2):c.1938del (p.Lys647fs) rs2128720948
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter) rs1172837844
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter) rs778531080
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter) rs1554297061
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs) rs1554297058
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.2016del (p.Met672fs) rs1554295967
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
NM_000535.7(PMS2):c.2050del (p.Leu684fs)
NM_000535.7(PMS2):c.205del (p.Ser69fs) rs2128830113
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter) rs730881914
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2123del (p.Asn708fs) rs781078805
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) rs1057524433
NM_000535.7(PMS2):c.2148del (p.Val717fs)
NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) rs1785419483
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter) rs786202202
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter) rs1060503110
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter) rs1060503110
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2208del (p.Ala737fs) rs2128683310
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) rs1554294448
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2249del (p.Gly750fs) rs1583285552
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2281del (p.Val761fs)
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) rs1554293975
NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
NM_000535.7(PMS2):c.2326_2327del (p.Trp776fs)
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter) rs587780054
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) rs1554293920
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
NM_000535.7(PMS2):c.2395dup (p.Arg799fs)
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) rs2128672594
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) rs1554293810
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)
NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter) rs587779338
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs) rs2128671557
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2450del (p.Met817fs)
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs) rs2128658792
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs) rs1554304940
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.2506del (p.Glu836fs) rs2128658092
NM_000535.7(PMS2):c.2516_2519del (p.His839fs)
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.261_265del (p.His88fs)
NM_000535.7(PMS2):c.262dup (p.His88fs)
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.312del (p.Phe104fs) rs1785372371
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter) rs63749862
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.33del (p.Ala12fs) rs1554306605
NM_000535.7(PMS2):c.351del (p.Ser118fs)
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
NM_000535.7(PMS2):c.368del (p.Ser123fs) rs2128819251
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter) rs1562690527
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter) rs116373169
NM_000535.7(PMS2):c.397_406del (p.Thr133fs)
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.3G>T (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.407del (p.Met136fs)
NM_000535.7(PMS2):c.42del (p.Ile15fs) rs2128846824
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)
NM_000535.7(PMS2):c.451del (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter) rs36038802
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter) rs1785199575
NM_000535.7(PMS2):c.487_497del (p.Phe163fs)
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter) rs1554309080
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
NM_000535.7(PMS2):c.512del (p.Lys171fs)
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
NM_000535.7(PMS2):c.51del (p.Ile18fs) rs1785715961
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter) rs1221485925
NM_000535.7(PMS2):c.525_534del (p.Asn176fs) rs1785187053
NM_000535.7(PMS2):c.525del (p.Asn176fs) rs2128815756
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter) rs1554303861
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) rs63751029
NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter) rs761134229
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter) rs758250810
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter) rs1562678257
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs) rs1784802468
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter) rs767028531
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter) rs767028531
NM_000535.7(PMS2):c.663del (p.Ser222fs) rs2128799910
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
NM_000535.7(PMS2):c.690_691del (p.Phe231fs) rs1064795447
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.717_723dup (p.Phe242fs) rs1583375182
NM_000535.7(PMS2):c.726del (p.Phe242fs) rs1583375132
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter) rs1562671039
NM_000535.7(PMS2):c.735dup (p.Pro246fs) rs2128788145
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.73C>T (p.Gln25Ter) rs1554306528
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter) rs756653193
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.742dup (p.Ser248fs) rs1784536095
NM_000535.7(PMS2):c.745_746insCTGCCCACAC (p.Asp249fs)
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.748_749del (p.Ser250fs) rs1554301486
NM_000535.7(PMS2):c.750del (p.Val251fs)
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
NM_000535.7(PMS2):c.767del (p.Gly256fs)
NM_000535.7(PMS2):c.769_778del (p.Leu257fs)
NM_000535.7(PMS2):c.781del (p.Asp261fs)
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.803+1G>A rs1562669585
NM_000535.7(PMS2):c.812del (p.Gly271fs)
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter) rs757324104
NM_000535.7(PMS2):c.846del (p.Ser283fs) rs1057515571
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) rs587782898
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.857_864del (p.Asp286fs) rs267608154
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter) rs1583363851
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.869del (p.Phe290fs) rs2128775109
NM_000535.7(PMS2):c.870del (p.Phe291fs) rs1784299649
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.878dup (p.Asn293fs) rs1344095646
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.947_948del (p.His316fs) rs878854060
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.960del (p.Phe320fs)
NM_000535.7(PMS2):c.972del (p.Asn324fs)
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter) rs1461669945
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
NM_000535.7:c.804-70_2445+71del

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