ClinVar Miner

List of variants in gene MSH2 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NC_000002.11:g.(47639700_47641407)_(47657081_47672686)dup
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter) rs63751646
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter) rs876658223
NM_000251.3(MSH2):c.1393_1420del (p.Asn465fs) rs2104082965
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1442_1445dup (p.Arg482fs) rs63750930
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1529_1531delinsT (p.Gln510fs) rs2104172666
NM_000251.3(MSH2):c.1543del (p.Ser515fs)
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter) rs1666904987
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1741del (p.Ile581fs) rs63750141
NM_000251.3(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.3(MSH2):c.2006-2A>T rs267607991
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2459-1G>C rs1060501991
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
NM_000251.3(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.3(MSH2):c.430del (p.Ser144fs) rs1672660841
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del) rs63750088
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter) rs587779170
NM_000251.3(MSH2):c.703_709del (p.Lys235fs) rs2104102733
NM_000251.3(MSH2):c.738del (p.Gly247fs) rs2104106456
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.3(MSH2):c.75del (p.Met26fs) rs1553348760
NM_000251.3(MSH2):c.762_780del (p.Asn254fs) rs2104108772
NM_000251.3(MSH2):c.792+1del rs1064794155
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs) rs1672951706
NM_000251.3(MSH2):c.928del (p.Asn311fs) rs1064793179
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.98_99del (p.Thr33fs) rs1672240193

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