ClinVar Miner

List of variants in gene MSH2 studied for Carcinoma of colon

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000251.3(MSH2):c.1014A>C (p.Gly338=) rs774083607 0.00002
NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys) rs1301023135 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln) rs138465383 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.972G>A (p.Gln324=) rs63750505 0.00001
NM_000251.3(MSH2):c.-1_211+1177del
NM_000251.3(MSH2):c.-2_211+156del rs2103865247
NM_000251.3(MSH2):c.-2_211+1del rs2103865151
NM_000251.3(MSH2):c.-4_211+864del
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1018dup (p.Arg340fs) rs63750703
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.3(MSH2):c.1077-2_1276+1del rs2104435254
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter) rs63751271
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.136_164del (p.His46fs) rs63751482
NM_000251.3(MSH2):c.1387-2del rs2104082025
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn) rs745874745
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1444dup (p.Arg482fs) rs63750068
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.3(MSH2):c.1497A>G (p.Ala499=) rs1357985821
NM_000251.3(MSH2):c.1534_1543del (p.Lys512fs) rs1553366522
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1560dup (p.Tyr521fs) rs1553366561
NM_000251.3(MSH2):c.1662-1_1759+1048del
NM_000251.3(MSH2):c.1760-3_2005+453del rs2104334736
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.1825G>C (p.Ala609Pro) rs150980616
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter) rs1114167811
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.2006-12T>G rs2104367663
NM_000251.3(MSH2):c.2006-2_2210+1del rs2104368001
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu) rs1057520735
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-1_366+1dup rs2103975062
NM_000251.3(MSH2):c.212-1_366+712del rs2103974925
NM_000251.3(MSH2):c.212-2_366+1del rs2103974901
NM_000251.3(MSH2):c.2148del (p.Asp716fs) rs1553369165
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys) rs1553369686
NM_000251.3(MSH2):c.2444del (p.Tyr815fs) rs2104409719
NM_000251.3(MSH2):c.2498T>A (p.Leu833His) rs1573578539
NM_000251.3(MSH2):c.2630G>A (p.Arg877Lys) rs1573579234
NM_000251.3(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.367-28A>G rs748645813
NM_000251.3(MSH2):c.367-2_645+1del rs2104016560
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.459del (p.Ala154fs) rs2104023773
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165
NM_000251.3(MSH2):c.613_616dup (p.Thr206fs) rs1553350946
NM_000251.3(MSH2):c.628_629del (p.Met210fs) rs1553350966
NM_000251.3(MSH2):c.646-1_648del rs1553351549
NM_000251.3(MSH2):c.646-1_792+486del rs2104097954
NM_000251.3(MSH2):c.648_650del (p.Ile217del) rs1553351554
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.696_697del (p.Ser233fs) rs63750426
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.943-2_1076+1del rs2104242036
NM_000251.3(MSH2):c.999dup (p.Lys334Ter) rs2104247370

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