ClinVar Miner

List of variants in gene MSH2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1077-225G>A rs192783837 0.00526
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000251.3(MSH2):c.*226A>G rs17225060 0.00201
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
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.1759+57G>T rs17218363 0.00089
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
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.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
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.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.1131A>G (p.Gln377=) rs181852377 0.00002
NM_000251.3(MSH2):c.1764T>C (p.Tyr588=) rs63750844 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.438T>C (p.Gly146=) rs587779161 0.00002
NM_000251.3(MSH2):c.105C>A (p.Arg35=) rs775554736 0.00001
NM_000251.3(MSH2):c.1194A>G (p.Ala398=) rs1060504412 0.00001
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2190G>A (p.Leu730=) rs864622370 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser) rs63749914 0.00001
GRCh37/hg19 2p21(chr2:47630331-47672796)x1
GRCh37/hg19 2p21(chr2:47707835-47710088)x1
NM_000251.3(MSH2):c.1119del (p.Arg373fs) rs63750516
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1206A>T (p.Gln402His) rs1553356673
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1277-3127A>G
NM_000251.3(MSH2):c.1277-3128TA[6]
NM_000251.3(MSH2):c.1321dup (p.Thr441fs) rs63750807
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer) rs1060502027
NM_000251.3(MSH2):c.14C>G (p.Pro5Arg) rs56170584
NM_000251.3(MSH2):c.1714_1715delinsAT (p.Glu572Ile) rs1558514635
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1832T>G (p.Val611Gly) rs1553368590
NM_000251.3(MSH2):c.1864C>G (p.Pro622Ala) rs63750280
NM_000251.3(MSH2):c.1880A>T (p.Lys627Ile) rs1667240539
NM_000251.3(MSH2):c.1989del (p.Met663fs) rs1558518588
NM_000251.3(MSH2):c.2011A>G (p.Asn671Asp) rs63751232
NM_000251.3(MSH2):c.2023A>C (p.Lys675Gln)
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2088A>G (p.Pro696=) rs878853807
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2267_2268insAGAA (p.Tyr757fs) rs1558521605
NM_000251.3(MSH2):c.2268C>G (p.Thr756=) rs1404389752
NM_000251.3(MSH2):c.250A>C (p.Asn84His) rs1573436418
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.458C>G (p.Ser153Cys) rs766349734
NM_000251.3(MSH2):c.498G>C (p.Val166=)
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165
NM_000251.3(MSH2):c.580A>G (p.Ile194Val) rs1672676776
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.646-20A>G rs2104096959
NM_000251.3(MSH2):c.6G>C (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.764G>C (p.Ser255Thr) rs763184168
NM_000251.3(MSH2):c.788_789del (p.Asn263fs) rs63751614
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.943-1G>C rs12476364
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188

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