ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP
NM_000179.2(MSH6):c.1252T>C (p.Ser418Pro) rs1251033858
NM_000179.2(MSH6):c.1445G>C (p.Arg482Pro) rs773226008
NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.2(MSH6):c.2234T>A (p.Ile745Asn) rs1558664787
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3438+1G>A rs267608096
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3646_3646+3del rs267608106
NM_000179.2(MSH6):c.3647-6_3647-1del rs267608112
NM_000179.2(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.2(MSH6):c.458-1G>A rs267608035
NM_000249.3(MLH1):c.1038+1G>C rs267607816
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.1039-2A>T rs267607815
NM_000249.3(MLH1):c.114C>A (p.Asn38Lys) rs267607706
NM_000249.3(MLH1):c.116+1G>A rs267607709
NM_000249.3(MLH1):c.117-1G>T rs587779950
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1409+2T>G rs587778911
NM_000249.3(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.3(MLH1):c.1558+2T>G rs267607831
NM_000249.3(MLH1):c.1559-1G>A rs267607837
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.1664T>C (p.Leu555Pro) rs587778937
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1668-1G>T rs267607845
NM_000249.3(MLH1):c.1668-3C>A rs267607844
NM_000249.3(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.3(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.1731+2T>G rs267607856
NM_000249.3(MLH1):c.1731+3A>T rs267607851
NM_000249.3(MLH1):c.1732-2A>G rs267607852
NM_000249.3(MLH1):c.1766C>A (p.Ala589Asp) rs63750016
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.1896+1G>A rs267607867
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1896+1delG rs267607868
NM_000249.3(MLH1):c.1896+2T>C rs267607869
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.3(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.3(MLH1):c.1989+1G>C rs267607879
NM_000249.3(MLH1):c.1990-16_1990-2del rs267607881
NM_000249.3(MLH1):c.1990-1G>T rs267607884
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.203T>A (p.Ile68Asn) rs63750281
NM_000249.3(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.207+1G>T rs267607718
NM_000249.3(MLH1):c.207+1_207+2del rs267607719
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+1G>C rs267607888
NM_000249.3(MLH1):c.2103+1G>T rs267607888
NM_000249.3(MLH1):c.2104-1G>T rs587778978
NM_000249.3(MLH1):c.2104-2A>G rs267607889
NM_000249.3(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.3(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.293_304del (p.Gly98_Gly101del) rs63751691
NM_000249.3(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.307-1G>C rs267607736
NM_000249.3(MLH1):c.307-2A>C rs267607732
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.380+2T>C rs267607742
NM_000249.3(MLH1):c.381-2A>G rs267607743
NM_000249.3(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.454-1G>T rs193922370
NM_000249.3(MLH1):c.454-2A>G rs267607753
NM_000249.3(MLH1):c.543C>G (p.Gly181=) rs1481129490
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.546-1G>A rs587779022
NM_000249.3(MLH1):c.574_588+2del rs587779023
NM_000249.3(MLH1):c.588+1delG rs267607773
NM_000249.3(MLH1):c.588+2T>A rs587779024
NM_000249.3(MLH1):c.589-1G>T rs587779027
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.677_677+1insT rs587779033
NM_000249.3(MLH1):c.678-1G>T rs267607784
NM_000249.3(MLH1):c.678-2A>G rs587779035
NM_000249.3(MLH1):c.73A>T (p.Ile25Phe) rs63749838
NM_000249.3(MLH1):c.790+1G>C rs267607789
NM_000249.3(MLH1):c.791-1G>T rs267607795
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.791-7T>A rs587779042
NM_000249.3(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.3(MLH1):c.884+2T>C rs267607806
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.3(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.3(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000251.2(MSH2):c.-78_-77del rs587779182
NM_000251.2(MSH2):c.1022T>C (p.Leu341Pro) rs63751147
NM_000251.2(MSH2):c.1076+1G>T rs267607940
NM_000251.2(MSH2):c.1077-1G>C rs267607944
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1077-2A>G rs267607943
NM_000251.2(MSH2):c.1077-2A>T rs267607943
NM_000251.2(MSH2):c.1276+1G>C rs267607950
NM_000251.2(MSH2):c.1276+1G>T rs267607950
NM_000251.2(MSH2):c.1276+2T>A rs267607953
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1277-1G>C rs267607948
NM_000251.2(MSH2):c.1277-2A>C rs267607949
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1386+1G>C rs267607957
NM_000251.2(MSH2):c.1386+1G>T rs267607957
NM_000251.2(MSH2):c.1387-1G>T rs267607956
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+2T>C rs267607976
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.2(MSH2):c.1955C>A (p.Pro652His) rs267607983
NM_000251.2(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.2(MSH2):c.2005+1G>A rs267607986
NM_000251.2(MSH2):c.2005+1G>C rs267607986
NM_000251.2(MSH2):c.2005+1G>T rs267607986
NM_000251.2(MSH2):c.2005+2_2005+12del rs587779123
NM_000251.2(MSH2):c.2005+2del rs587779124
NM_000251.2(MSH2):c.2006-1G>C rs267607988
NM_000251.2(MSH2):c.2006-2A>G rs267607991
NM_000251.2(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.212-2A>G rs267607917
NM_000251.2(MSH2):c.2210+1G>A rs267608002
NM_000251.2(MSH2):c.2210+1G>C rs267608002
NM_000251.2(MSH2):c.2211-1G>T rs267607979
NM_000251.2(MSH2):c.2211-2A>C rs267608001
NM_000251.2(MSH2):c.2211-2A>T rs267608001
NM_000251.2(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.2(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.2635-1G>T rs267608020
NM_000251.2(MSH2):c.2635-2A>G rs1114167818
NM_000251.2(MSH2):c.277C>T (p.Leu93Phe) rs63751429
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.366+1G>T rs267607924
NM_000251.2(MSH2):c.367-1G>A rs267607925
NM_000251.2(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.2(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.2(MSH2):c.645+1G>T rs267607689
NM_000251.2(MSH2):c.646-2A>G rs587779169
NM_000251.2(MSH2):c.646-3_654del rs267607929
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.942+2T>G rs587779195
NM_000251.2(MSH2):c.942+2del rs587779194
NM_000251.2(MSH2):c.943-1G>A rs12476364
NM_000251.2(MSH2):c.943-1G>C rs12476364
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.251-2A>G rs587779340
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_001167617.2(MLH1):c.-46A>G rs587778998
NM_001258281.1(MSH2):c.848_849delinsGC (p.Pro283Arg) rs1558466685
NM_001354621.1(MLH1):c.-36_-34del rs63751197
NM_001354630.1(MLH1):c.1732-895_1732-893del rs63750486

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