ClinVar Miner

List of variants in gene MSH2 reported as likely pathogenic for Hereditary nonpolyposis colon cancer

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Total variants: 45
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HGVS dbSNP
NC_000002.11:g.(?_47641398)_(47657090_?)dup
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.106_212-1229del
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.2(MSH2):c.1077-2A>G rs267607943
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1661+2T>C rs1553366680
NM_000251.2(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+1G>T
NM_000251.2(MSH2):c.1759+2T>C rs267607976
NM_000251.2(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.2(MSH2):c.1759G>C (p.Gly587Arg) rs63751140
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1760-2_1783del rs1064795329
NM_000251.2(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.207_211+42del rs1553348901
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.211+2T>C rs1060501993
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.2210+1G>A rs267608002
NM_000251.2(MSH2):c.2211-2A>G rs267608001
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2458+1G>T rs267608010
NM_000251.2(MSH2):c.2459-1G>C
NM_000251.2(MSH2):c.2459-6_2459-2del rs1114167841
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
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.560T>G (p.Leu187Arg) rs63751444
NM_000251.2(MSH2):c.571_573delCTC rs587779165
NM_000251.2(MSH2):c.645+2T>A
NM_000251.2(MSH2):c.645+2T>G rs876658996
NM_000251.2(MSH2):c.646-2A>G rs587779169
NM_000251.2(MSH2):c.792+1delG rs1064794155
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.943-1G>C rs12476364
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
Single allele

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