ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome 1 by Myriad Genetics, Inc.

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ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000251.3(MSH2):c.2459-6_2459-2del rs1114167841 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val) rs587779065
NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro) rs1673078633
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys) rs753075410
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly) rs587779070
NM_000251.3(MSH2):c.1076+1del rs1673083690
NM_000251.3(MSH2):c.1076+1dup rs1673083690
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile) rs63751604
NM_000251.3(MSH2):c.1272_1276+6del rs2466000289
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276+1G>C rs267607950
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1277-1G>C rs267607948
NM_000251.3(MSH2):c.1277-1G>T rs267607948
NM_000251.3(MSH2):c.1277-2A>C rs267607949
NM_000251.3(MSH2):c.1277-2A>G rs267607949
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg) rs587779084
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg) rs1060502025
NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro) rs1445965781
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1386+2T>G rs1675076969
NM_000251.3(MSH2):c.1387-2A>T rs1573547594
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg) rs2104087118
NM_000251.3(MSH2):c.1508T>C (p.Leu503Pro) rs587779095
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1510+1G>C rs1114167852
NM_000251.3(MSH2):c.1510+1G>T rs1114167852
NM_000251.3(MSH2):c.1510+2T>A rs1060502023
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000251.3(MSH2):c.1510+2_1510+50del rs1558508399
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1511-2A>C rs267607962
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser) rs587782587
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu) rs2528756764
NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro) rs63750838
NM_000251.3(MSH2):c.1659_1661+2delinsGAGGG rs2528758487
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg) rs63751656
NM_000251.3(MSH2):c.1661+1del rs2528758741
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr) rs63750597
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro) rs1667078647
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr) rs63750657
NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp) rs2104338716
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln) rs28929483
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.3(MSH2):c.1906_2005+8del rs2528907360
NM_000251.3(MSH2):c.2005+1G>A rs267607986
NM_000251.3(MSH2):c.2005+1G>C rs267607986
NM_000251.3(MSH2):c.2005+1G>T rs267607986
NM_000251.3(MSH2):c.2005+2T>A rs267607987
NM_000251.3(MSH2):c.2005+2T>C rs267607987
NM_000251.3(MSH2):c.2005+2T>G rs267607987
NM_000251.3(MSH2):c.2005+2del rs587779124
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2006-1G>A rs267607988
NM_000251.3(MSH2):c.2006-1G>C rs267607988
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.2006-4_2006-2delinsCT rs2528938452
NM_000251.3(MSH2):c.2006-6_2006-2delinsCTGTG rs2528938267
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr) rs63751232
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.3(MSH2):c.201_211+3del rs2465590700
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu) rs1057520735
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg) rs876660711
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro) rs1203462814
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro) rs1667302018
NM_000251.3(MSH2):c.2042_2045delinsCAAT (p.Gln681_Thr682delinsProIle) rs2528941040
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg) rs1667303602
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg) rs587779133
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) rs914610419
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp) rs1060502020
NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys) rs587779134
NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr) rs1057524909
NM_000251.3(MSH2):c.207_211+42del rs1553348901
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile) rs63751409
NM_000251.3(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg) rs267607994
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp) rs63750872
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu) rs876658251
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.212-2A>T rs267607917
NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn) rs63750108
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro) rs138465383
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro) rs1667315990
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.2210+2T>A rs2104379659
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.2211-1G>T rs267607979
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu) rs63751155
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del) rs587779142
NM_000251.3(MSH2):c.2242G>C (p.Asp748His) rs267608007
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly) rs2528979410
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro) rs750646335
NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr) rs876658254
NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg) rs63749854
NM_000251.3(MSH2):c.2276G>T (p.Gly759Val) rs386833406
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) rs1318630651
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro) rs2104407685
NM_000251.3(MSH2):c.239T>C (p.Leu80Pro) rs2103976941
NM_000251.3(MSH2):c.2402A>C (p.His801Pro) rs1114167875
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2458+1G>C rs267608010
NM_000251.3(MSH2):c.2458+1G>T rs267608010
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.2459-1G>C rs1060501991
NM_000251.3(MSH2):c.2459-1G>T rs1060501991
NM_000251.3(MSH2):c.2459-2A>C rs267608011
NM_000251.3(MSH2):c.2459-2A>G rs267608011
NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs) rs1553370381
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2634+5G>T rs267608017
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2635-1G>A rs267608020
NM_000251.3(MSH2):c.2635-1G>C rs267608020
NM_000251.3(MSH2):c.2635-1G>T rs267608020
NM_000251.3(MSH2):c.2635-2A>G rs1114167818
NM_000251.3(MSH2):c.2635-2del rs2529069818
NM_000251.3(MSH2):c.2637del (p.Gly880fs) rs2529069953
NM_000251.3(MSH2):c.2639del (p.Gly880fs)
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.366+1G>C rs267607924
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.443T>A (p.Val148Glu) rs1553350714
NM_000251.3(MSH2):c.482T>A (p.Val161Asp) rs63750126
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg) rs63751444
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr) rs63751136
NM_000251.3(MSH2):c.642_645+3delinsCAAATTG rs2465716750
NM_000251.3(MSH2):c.646-2A>C rs587779169
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.646-5_655del rs2465746782
NM_000251.3(MSH2):c.793-1G>C rs863225397
NM_000251.3(MSH2):c.793-1G>T rs863225397
NM_000251.3(MSH2):c.793-2A>G rs267607933
NM_000251.3(MSH2):c.793-2A>T rs267607933
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro) rs1573451078
NM_000251.3(MSH2):c.809T>G (p.Leu270Arg) rs1573451078
NM_000251.3(MSH2):c.943-51_988del rs2465813537
NM_000251.3(MSH2):c.943-8_943del rs2465814260
NM_000251.3(MSH2):c.989T>G (p.Leu330Arg) rs63750630
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp) rs1553353167

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