ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
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.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.2:c.-125_1076del
NM_000251.3(MSH2):c.1003del (p.Thr335fs) rs1673074932
NM_000251.3(MSH2):c.1008del (p.Gln337fs) rs879253899
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter) rs979212552
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1077-2A>C rs267607943
NM_000251.3(MSH2):c.1077_1276del rs1553356518
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs) rs1558451119
NM_000251.3(MSH2):c.11dup (p.Pro5fs) rs730881775
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter) rs1064795063
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1300del (p.Ala434fs)
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs) rs876658834
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.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1747_1748del (p.Asn583fs) rs1553367687
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg) rs876660711
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.3(MSH2):c.211+1G>T rs1114167883
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.3(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.3(MSH2):c.2634+2T>G rs876660546
NM_000251.3(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.321del (p.Gly108fs) rs1573436948
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.3(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.3(MSH2):c.350G>A (p.Trp117Ter) rs786202083
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter) rs1558457486
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.380dup (p.Asn127fs) rs1558458884
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.421_422del (p.Met141fs) rs1553350680
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter) rs63751326
NM_000251.3(MSH2):c.645+1G>A rs267607689
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.806_807insTGTACCGCAGATT (p.Leu270fs) rs1064793863
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828

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