ClinVar Miner

List of variants in gene MSH2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
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.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000251.3(MSH2):c.*129T>C rs587779059 0.00042
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.138C>G (p.His46Gln) rs33946261 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000251.2(MSH2):c.-116G>T rs587782786 0.00015
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.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000251.3(MSH2):c.*221G>T rs587779060 0.00010
NM_000251.3(MSH2):c.-29C>T rs199841800 0.00009
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 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.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys) rs63750902 0.00006
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000251.2(MSH2):c.-76G>A rs34355730 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.2580G>A (p.Ser860=) rs752428475 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.2(MSH2):c.-43G>C rs781492698 0.00001
NM_000251.2(MSH2):c.-94C>G rs786202841 0.00001
NM_000251.2(MSH2):c.-98C>T rs777285149 0.00001
NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser) rs139920308 0.00001
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile) rs1553368510 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2106G>A (p.Val702=) rs786201108 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.335C>G (p.Ser112Cys) rs769215192 0.00001
NM_000251.3(MSH2):c.669G>A (p.Leu223=) rs751195930 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.816G>A (p.Ala272=) rs368912987 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.3(MSH2):c.*47G>A rs1196239075
NM_000251.3(MSH2):c.*52A>T rs886056138
NM_000251.3(MSH2):c.*64T>C rs1278729941
NM_000251.3(MSH2):c.*7C>G rs886056137
NM_000251.3(MSH2):c.1076+4T>A rs764606343
NM_000251.3(MSH2):c.1124C>G (p.Thr375Ser) rs774539871
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr) rs988252817
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val) rs1060502019
NM_000251.3(MSH2):c.2005+3A>G rs1060502014
NM_000251.3(MSH2):c.209C>A (p.Ala70Glu) rs587782481
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2463C>T (p.Val821=) rs886056136
NM_000251.3(MSH2):c.2553T>G (p.Leu851=) rs1553370386
NM_000251.3(MSH2):c.562G>A (p.Glu188Lys) rs1064795622
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.638T>G (p.Leu213Arg) rs1553350974
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro) rs370906735
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117

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