ClinVar Miner

List of variants in gene MSH2 reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
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.339G>A (p.Lys113=) rs35898375 0.00313
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
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.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
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.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000251.3(MSH2):c.2210+7G>T rs374675118 0.00010
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys) rs41295286 0.00009
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 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.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.216A>G (p.Ala72=) rs746298214 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg) rs749660228 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala) rs368982417 0.00004
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg) rs587781795 0.00003
NM_000251.3(MSH2):c.232G>A (p.Val78Ile) rs772779997 0.00002
NM_000251.3(MSH2):c.943-6T>C rs768644134 0.00002
NM_000251.3(MSH2):c.-8G>A rs1064795641 0.00001
NM_000251.3(MSH2):c.1077-3C>T rs758182607 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.1378A>G (p.Met460Val) rs575905950 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.159C>T (p.Ala53=) rs780178752 0.00001
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile) rs864622079 0.00001
NM_000251.3(MSH2):c.1773A>G (p.Pro591=) rs786203894 0.00001
NM_000251.3(MSH2):c.2082T>C (p.Phe694=) rs748210094 0.00001
NM_000251.3(MSH2):c.2211-15A>T rs776161776 0.00001
NM_000251.3(MSH2):c.2667C>G (p.Ser889=) rs561680100 0.00001
NM_000251.3(MSH2):c.2710A>G (p.Ile904Val) rs1463743654 0.00001
NM_000251.3(MSH2):c.2726A>G (p.Lys909Arg) rs34319539 0.00001
NM_000251.3(MSH2):c.2728C>A (p.Gln910Lys) rs775130557 0.00001
NM_000251.3(MSH2):c.645+8A>G rs140217708 0.00001
NM_000251.3(MSH2):c.646-18C>G rs140723233 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser) rs1487094949
NM_000251.3(MSH2):c.1551A>G (p.Ala517=) rs753227902
NM_000251.3(MSH2):c.1776G>T (p.Met592Ile) rs1384503379
NM_000251.3(MSH2):c.1794G>T (p.Val598=) rs1573566431
NM_000251.3(MSH2):c.1922G>A (p.Cys641Tyr) rs786204110
NM_000251.3(MSH2):c.2039G>T (p.Arg680Leu) rs1203462814
NM_000251.3(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.3(MSH2):c.2065G>T (p.Ala689Ser) rs914610419
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000251.3(MSH2):c.2392AAT[1] (p.Asn799del) rs1573574468
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg) rs17217716
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly) rs63750797
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.448G>A (p.Val150Ile) rs1558459157
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269
NM_000251.3(MSH2):c.62_63delinsTT (p.Arg21Leu) rs1060501996
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.92C>G (p.Thr31Ser) rs746635262
NM_000251.3(MSH2):c.942+17_942+29del rs11309117
NM_000251.3(MSH2):c.942+20_942+29del rs11309117
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.