ClinVar Miner

List of variants in gene MSH2 reported as uncertain significance by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg) rs749660228 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.2517T>A (p.His839Gln) rs267608016 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg) rs587781795 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.1014A>C (p.Gly338=) rs774083607 0.00002
NM_000251.3(MSH2):c.1510+11G>C rs370675562 0.00002
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn) rs763100088 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu) rs730881769 0.00002
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr) rs730881778 0.00002
NM_000251.3(MSH2):c.792+5A>G rs267607935 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000251.3(MSH2):c.-8G>A rs1064795641 0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu) rs761960690 0.00001
NM_000251.3(MSH2):c.1341C>G (p.Phe447Leu) rs587781373 0.00001
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr) rs1553361303 0.00001
NM_000251.3(MSH2):c.1424A>T (p.Asp475Val) rs1349765126 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu) rs267607982 0.00001
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106 0.00001
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln) rs138465383 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu) rs563410947 0.00001
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1024G>A (p.Val342Ile) rs63749879
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1277-12A>T rs1181142850
NM_000251.3(MSH2):c.1277-13T>A rs1553361114
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe) rs17217723
NM_000251.3(MSH2):c.1299G>A (p.Leu433=) rs1573519281
NM_000251.3(MSH2):c.1321A>G (p.Thr441Ala) rs587779086
NM_000251.3(MSH2):c.1327C>G (p.Leu443Val) rs876659906
NM_000251.3(MSH2):c.1387-9T>A rs587779087
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn) rs745874745
NM_000251.3(MSH2):c.1656del (p.Asn553fs) rs1114167817
NM_000251.3(MSH2):c.1661+6C>A rs267607973
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr) rs63750597
NM_000251.3(MSH2):c.1681_1682dup (p.Glu562fs) rs1553367608
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.1760-3_2006-297del
NM_000251.3(MSH2):c.1787ATG[1] (p.Asp597del) rs2104336938
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1825G>C (p.Ala609Pro) rs150980616
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.3(MSH2):c.197_211+199del rs2103881526
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2005+2T>G rs267607987
NM_000251.3(MSH2):c.2005+3_2005+13del rs2104351277
NM_000251.3(MSH2):c.2006-12T>G rs2104367663
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu) rs1057520735
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr) rs2104371537
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser) rs1114167857
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.3(MSH2):c.212-1_366+1dup rs2103975062
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.2147A>G (p.Asp716Gly) rs2104376248
NM_000251.3(MSH2):c.2165T>C (p.Val722Ala) rs2104377193
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter) rs63751155
NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys) rs1553369686
NM_000251.3(MSH2):c.2280del (p.Phe760fs) rs2104401876
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
NM_000251.3(MSH2):c.2401C>T (p.His801Tyr) rs1573574512
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile) rs587781678
NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs) rs1553370310
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu) rs2104435371
NM_000251.3(MSH2):c.2498T>A (p.Leu833His) rs1573578539
NM_000251.3(MSH2):c.2516A>C (p.His839Pro) rs63750027
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg) rs754533481
NM_000251.3(MSH2):c.2580G>T (p.Ser860=) rs752428475
NM_000251.3(MSH2):c.2630G>A (p.Arg877Lys) rs1573579234
NM_000251.3(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.3(MSH2):c.2662C>T (p.Leu888=) rs1667578174
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu) rs786203553
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg) rs587780687
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys) rs63751173
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln) rs587779970
NM_000251.3(MSH2):c.332C>T (p.Ala111Val) rs1672561306
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.424T>G (p.Ser142Ala) rs1064795714
NM_000251.3(MSH2):c.448G>T (p.Val150Phe) rs1558459157
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.3(MSH2):c.638T>A (p.Leu213Gln) rs1553350974
NM_000251.3(MSH2):c.648_650del (p.Ile217del) rs1553351554
NM_000251.3(MSH2):c.659G>A (p.Gly220Glu) rs1573446509
NM_000251.3(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.3(MSH2):c.731T>C (p.Leu244Ser) rs1553351657
NM_000251.3(MSH2):c.836T>C (p.Leu279Pro) rs1024743168
NM_000251.3(MSH2):c.935T>C (p.Leu312Pro) rs2104180665
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000251.3(MSH2):c.965del (p.Gly322fs) rs2104243932

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