ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 9
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NM_000251.2(MSH2):c.1307_1308dup (p.Val437fs) rs1060502035
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.263_264del (p.Phe88fs) rs267607920
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.3(MSH2):c.2629_2630AG[2] (p.Glu878fs) rs63751618

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