ClinVar Miner

List of variants in gene MSH2 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2459-6_2459-2del rs1114167841 0.00001
NC_000002.11:g.(?_47630252)_(47643578_?)dup
NC_000002.11:g.(?_47630252)_(47643588_?)dup
NC_000002.11:g.(?_47635062)_(47635621_?)del
NC_000002.11:g.(?_47635530)_(47635704_?)dup
NC_000002.11:g.(?_47635530)_(47641567_?)dup
NC_000002.11:g.(?_47635530)_(47672806_?)dup
NC_000002.11:g.(?_47637223)_(47643578_?)dup
NC_000002.11:g.(?_47639533)_(47643588_?)dup
NC_000002.11:g.(?_47639543)_(47639709_?)del
NC_000002.11:g.(?_47641398)_(47657090_?)dup
NC_000002.11:g.(?_47643425)_(47643578_?)dup
NC_000002.11:g.(?_47656871)_(47657090_?)dup
NC_000002.11:g.(?_47656871)_(47698211_?)dup
NC_000002.11:g.(?_47656871)_(47705668_?)dup
NC_000002.11:g.(?_47657001)_(47664874_?)del
NC_000002.11:g.(?_47669476)_(47693957_?)dup
NC_000002.11:g.(?_47690160)_(47693957_?)dup
NC_000002.11:g.(?_47690160)_(47702419_?)dup
NC_000002.11:g.(?_47698094)_(47698211_?)dup
NC_000002.12:g.(?_47403011)_(47416439_?)dup
NC_000002.12:g.(?_47403182)_(47416439_?)dup
NC_000002.12:g.(?_47429736)_(47466814_?)del
NM_000251.2(MSH2):c.1077-?_*279+?del
NM_000251.2(MSH2):c.1077-?_1276+?dup
NM_000251.2(MSH2):c.212-?_366+?dup
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser) rs267607939
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.3(MSH2):c.106_212-1229del
NM_000251.3(MSH2):c.1076+1dup rs1673083690
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile) rs63751604
NM_000251.3(MSH2):c.1077-2A>C rs267607943
NM_000251.3(MSH2):c.1077-2A>G rs267607943
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-14C>G rs267607951
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg) rs587779084
NM_000251.3(MSH2):c.1387-1G>A rs267607956
NM_000251.3(MSH2):c.1387-2A>G rs1573547594
NM_000251.3(MSH2):c.1387-2A>T
NM_000251.3(MSH2):c.1387-2del rs2104082025
NM_000251.3(MSH2):c.1416_1510+369del
NM_000251.3(MSH2):c.1570C>G (p.Arg524Gly)
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.1662-12_1677del rs864622436
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.3(MSH2):c.1799C>T (p.Ala600Val) rs63751236
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1862G>C (p.Arg621Pro) rs759263820
NM_000251.3(MSH2):c.1864C>G (p.Pro622Ala) rs63750280
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2006-1G>C rs267607988
NM_000251.3(MSH2):c.2006-7_2022del rs2104367794
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser) rs63750234
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro) rs1203462814
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg) rs1667303602
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
NM_000251.3(MSH2):c.2063T>C (p.Met688Thr) rs63749993
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.207_211+42del rs1553348901
NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser) rs63750398
NM_000251.3(MSH2):c.211+2del
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2132G>T (p.Arg711Leu) rs138465383
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.2210+2T>C rs2104379659
NM_000251.3(MSH2):c.2210G>A (p.Arg737Lys) rs267607997
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.2245G>A (p.Glu749Lys) rs63751477
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2458+1G>T rs267608010
NM_000251.3(MSH2):c.2459-11A>G
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.2459-1G>C rs1060501991
NM_000251.3(MSH2):c.2459-2A>G rs267608011
NM_000251.3(MSH2):c.2634+5G>T rs267608017
NM_000251.3(MSH2):c.2635-1G>C rs267608020
NM_000251.3(MSH2):c.2635-2A>C rs1114167818
NM_000251.3(MSH2):c.2635-2A>G rs1114167818
NM_000251.3(MSH2):c.2635-3C>G rs587779153
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.367-1G>C rs267607925
NM_000251.3(MSH2):c.367-1_370del
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
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.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs) rs2104042264
NM_000251.3(MSH2):c.645+2T>A rs876658996
NM_000251.3(MSH2):c.646-1_648del rs1553351549
NM_000251.3(MSH2):c.646-2A>C rs587779169
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.646-2A>T rs587779169
NM_000251.3(MSH2):c.646-3T>G rs267607930
NM_000251.3(MSH2):c.646-3_654del rs267607929
NM_000251.3(MSH2):c.797C>T (p.Ala266Val) rs587781745
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
Single allele

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