ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.1036_1037dup (p.Lys347fs)
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.1051dup (p.Met351fs)
NM_000251.3(MSH2):c.1071_1072dup (p.Glu358fs) rs1558466769
NM_000251.3(MSH2):c.1077-2A>C rs267607943
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter) rs1558478136
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter) rs63750267
NM_000251.3(MSH2):c.1143del (p.Arg382fs) rs1553356594
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1154del (p.Pro385fs) rs1673938031
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.119del (p.Gly40fs) rs63750984
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter) rs63751271
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs) rs587779076
NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter) rs151244108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.3(MSH2):c.130_131delinsG (p.Thr44fs) rs1672244370
NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs) rs63750957
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1401dup (p.Phe468fs) rs1553365711
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter) rs63749947
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1471A>T (p.Lys491Ter) rs1666730991
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter) rs63750780
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1648A>T (p.Lys550Ter) rs1558511191
NM_000251.3(MSH2):c.1673del (p.Ser558fs) rs1573560283
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter) rs1114167816
NM_000251.3(MSH2):c.1697del (p.Asn566fs) rs63750737
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1714del (p.Glu572fs)
NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter) rs63751298
NM_000251.3(MSH2):c.174dup (p.Lys59fs) rs1672250622
NM_000251.3(MSH2):c.1770del (p.Glu590fs) rs1573566217
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.3(MSH2):c.182del (p.Gln61fs) rs1553348882
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter) rs1380847972
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.1889_1892del (p.Gly630fs) rs63750960
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter) rs63750078
NM_000251.3(MSH2):c.1964del (p.Val655fs) rs1667248887
NM_000251.3(MSH2):c.2005+2T>C rs267607987
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe) rs63750398
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.212del rs1672547846
NM_000251.3(MSH2):c.2135dup (p.Gly713fs) rs63751453
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2154del (p.Gln718fs) rs1667312762
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter) rs63751105
NM_000251.3(MSH2):c.2332del (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2365_2366delinsT (p.Ala789fs) rs2104405937
NM_000251.3(MSH2):c.2391_2398delinsG (p.Asn798fs) rs1667399090
NM_000251.3(MSH2):c.2395_2398del (p.Asn799fs) rs1667399535
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.2519dup (p.Ile841fs)
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs) rs587779148
NM_000251.3(MSH2):c.255del (p.Phe85fs) rs63751158
NM_000251.3(MSH2):c.2572G>T (p.Gly858Ter) rs754533481
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2647del (p.Ile883fs) rs63750084
NM_000251.3(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter) rs63750458
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.3(MSH2):c.454dup (p.Met152fs) rs63751449
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.513del (p.Lys172fs) rs63750933
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter) rs63750037
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.3(MSH2):c.563del (p.Glu188fs) rs1114167885
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter) rs587779170
NM_000251.3(MSH2):c.680_681del (p.Arg227fs) rs1558461683
NM_000251.3(MSH2):c.680_683del (p.Arg227fs) rs587782537
NM_000251.3(MSH2):c.686_687del (p.Lys229fs) rs63749897
NM_000251.3(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter) rs369670665
NM_000251.3(MSH2):c.771_772del (p.Leu258fs) rs1672830111
NM_000251.3(MSH2):c.788_789del (p.Asn263fs) rs63751614
NM_000251.3(MSH2):c.792+1G>A rs267607934
NM_000251.3(MSH2):c.830T>A (p.Leu277Ter) rs786203424
NM_000251.3(MSH2):c.832_833del (p.Glu278fs) rs1672947148
NM_000251.3(MSH2):c.839dup (p.Leu280fs) rs63750091
NM_000251.3(MSH2):c.840dup (p.Ser281fs)
NM_000251.3(MSH2):c.858del (p.Phe286fs) rs1553352474
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.3(MSH2):c.882del (p.Phe294fs) rs63751115
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.96dup (p.Thr33fs) rs1672239981
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828

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