ClinVar Miner

List of variants studied for Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2

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ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000251.3(MSH2):c.1661+11C>T rs377154011 0.00030
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000251.3(MSH2):c.-181G>A rs786201698 0.00010
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr) rs63750757 0.00008
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu) rs63750611 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.183G>T (p.Gln61His) rs751082926 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg) rs587779973 0.00004
NM_000251.3(MSH2):c.1617T>C (p.Phe539=) rs730881759 0.00003
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106 0.00003
NM_000251.3(MSH2):c.594A>G (p.Glu198=) rs369685768 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.1817T>A (p.Val606Asp) rs376044376 0.00002
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu) rs41294982 0.00002
NM_000251.3(MSH2):c.2459-9T>C rs776644342 0.00002
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys) rs775390721 0.00002
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1221C>G (p.Leu407=) rs63750813 0.00001
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro) rs55653533 0.00001
NM_000251.3(MSH2):c.1485A>G (p.Thr495=) rs767039383 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val) rs786202987 0.00001
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn) rs1449905909 0.00001
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr) rs864622093 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2082T>C (p.Phe694=) rs748210094 0.00001
NM_000251.3(MSH2):c.2086C>T (p.Pro696Ser) rs546201898 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn) rs879254183 0.00001
NM_000251.3(MSH2):c.2248T>C (p.Leu750=) rs527725593 0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val) rs373393954 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met) rs768983827 0.00001
NM_000251.3(MSH2):c.439G>A (p.Val147Ile) rs773125415 0.00001
NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr) rs730881770 0.00001
NM_000251.3(MSH2):c.554C>T (p.Ser185Phe) rs878853819 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000251.3(MSH2):c.933C>A (p.Asn311Lys) rs1060504424 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000251.3(MSH2):c.996G>A (p.Lys332=) rs863224343 0.00001
NC_000002.11:g.(?_47622043)_(47627579_?)dup
NC_000002.11:g.47630331_47643568dup
NC_000002.12:g.107580437_107580438del
NM_000251.3(MSH2):c.-11G>C rs1057524512
NM_000251.3(MSH2):c.-1_211+1176del
NM_000251.3(MSH2):c.-1_211+156del
NM_000251.3(MSH2):c.-1_211+1del
NM_000251.3(MSH2):c.-1_211+866del
NM_000251.3(MSH2):c.-81dup rs587779187
NM_000251.3(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1005C>T (p.Thr335=) rs749117915
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.101T>G (p.Val34Gly)
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly) rs1060502034
NM_000251.3(MSH2):c.1054G>A (p.Asp352Asn) rs1465121242
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp) rs1242235025
NM_000251.3(MSH2):c.110T>G (p.Phe37Cys)
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter) rs63751271
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu) rs146567853
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala) rs786203116
NM_000251.3(MSH2):c.1320dup (p.Thr441fs)
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys) rs267607954
NM_000251.3(MSH2):c.136_164del (p.His46fs) rs63751482
NM_000251.3(MSH2):c.1375G>C (p.Asp459His) rs1553361295
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1387-2del rs2104082025
NM_000251.3(MSH2):c.1401A>G (p.Glu467=) rs1558508085
NM_000251.3(MSH2):c.1454T>C (p.Met485Thr) rs1553365763
NM_000251.3(MSH2):c.1485A>T (p.Thr495=)
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu) rs876658582
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.154C>A (p.Leu52Met) rs786202335
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr) rs749212640
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr) rs1553366622
NM_000251.3(MSH2):c.1626A>G (p.Val542=) rs1553366635
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.1672dup (p.Ser558fs)
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys) rs63751054
NM_000251.3(MSH2):c.1746C>A (p.Val582=) rs786201486
NM_000251.3(MSH2):c.1760-1_2006-296del
NM_000251.3(MSH2):c.1760_2005+455del
NM_000251.3(MSH2):c.1789_1790insT (p.Asp597fs)
NM_000251.3(MSH2):c.1837A>C (p.Asn613His) rs200147804
NM_000251.3(MSH2):c.1856A>C (p.Tyr619Ser)
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys) rs1361816581
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys) rs1064795992
NM_000251.3(MSH2):c.1937A>T (p.Asp646Val) rs41295290
NM_000251.3(MSH2):c.1961A>T (p.Asp654Val) rs2104348304
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.1_211del (p.Met1fs)
NM_000251.3(MSH2):c.200T>G (p.Met67Arg) rs876660001
NM_000251.3(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.3(MSH2):c.2048G>C (p.Gly683Ala)
NM_000251.3(MSH2):c.2052G>T (p.Val684=)
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr) rs914610419
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr) rs754824872
NM_000251.3(MSH2):c.2077T>G (p.Cys693Gly)
NM_000251.3(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro) rs1428704795
NM_000251.3(MSH2):c.211+1G>C rs1114167883
NM_000251.3(MSH2):c.212-1_366+711del
NM_000251.3(MSH2):c.212-5_212-4del rs746333570
NM_000251.3(MSH2):c.213_1076+1del
NM_000251.3(MSH2):c.2206C>G (p.Leu736Val) rs876658727
NM_000251.3(MSH2):c.2210+7G>A rs374675118
NM_000251.3(MSH2):c.2213C>G (p.Ser738Cys)
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu) rs63751155
NM_000251.3(MSH2):c.2230T>C (p.Leu744=) rs1188205467
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser) rs757268664
NM_000251.3(MSH2):c.2262_2267del (p.Ser755_Thr756del)
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr) rs878853811
NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr) rs1558521842
NM_000251.3(MSH2):c.2395_2396insTT (p.Asn799fs)
NM_000251.3(MSH2):c.23C>A (p.Thr8Lys) rs17217716
NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser) rs41295294
NM_000251.3(MSH2):c.2455A>G (p.Lys819Glu) rs1369739730
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2538G>T (p.Gln846His)
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)
NM_000251.3(MSH2):c.2618_2620dup (p.Cys873_Tyr874insCys)
NM_000251.3(MSH2):c.2645A>C (p.Lys882Thr) rs1284087975
NM_000251.3(MSH2):c.2670G>A (p.Lys890=) rs1196909514
NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter) rs878853814
NM_000251.3(MSH2):c.2704G>A (p.Glu902Lys)
NM_000251.3(MSH2):c.2704G>C (p.Glu902Gln)
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.2755A>G (p.Asn919Asp) rs1573582795
NM_000251.3(MSH2):c.2757T>C (p.Asn919=) rs1354355913
NM_000251.3(MSH2):c.291G>T (p.Gln97His) rs1064794792
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg) rs1672561938
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu) rs374127044
NM_000251.3(MSH2):c.367-400_476del
NM_000251.3(MSH2):c.368_645+1del
NM_000251.3(MSH2):c.373C>A (p.Pro125Thr) rs761767467
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.418_420del (p.Asp140del)
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.3(MSH2):c.45C>T (p.Ala15=) rs876659170
NM_000251.3(MSH2):c.505A>C (p.Ile169Leu)
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln) rs1064795622
NM_000251.3(MSH2):c.572T>C (p.Leu191Pro)
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter) rs587779166
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro) rs1060501992
NM_000251.3(MSH2):c.680_683del (p.Arg227fs) rs587782537
NM_000251.3(MSH2):c.690T>C (p.Ala230=) rs1553351595
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu) rs587779976
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.726C>G (p.Asn242Lys) rs748427458
NM_000251.3(MSH2):c.73G>T (p.Gly25Cys) rs746259256
NM_000251.3(MSH2):c.746A>C (p.Lys249Thr) rs61756464
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793-2A>T
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu) rs63750058
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro) rs1573451078
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys) rs139891783
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.3(MSH2):c.867T>G (p.Phe289Leu)
NM_000251.3(MSH2):c.900G>A (p.Met300Ile) rs587782530
NM_000251.3(MSH2):c.924_942del (p.Ala309fs)
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.3(MSH2):c.930T>C (p.Leu310=)
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter) rs1114167845
NM_000251.3(MSH2):c.942+1G>A rs587779193
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+2_942+4del rs767111319
NM_000251.3(MSH2):c.942+2del rs587779194
NM_000251.3(MSH2):c.942+3_942+4delinsGG
NM_000251.3(MSH2):c.942+3_942+4insC
NM_000251.3(MSH2):c.943-6_943-1delinsA
NM_000251.3(MSH2):c.943G>T (p.Gly315Cys) rs2104242161
NM_000251.3(MSH2):c.946del (p.Ser316fs)
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro) rs63750630

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