ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1760-2_1783del rs1064795329
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.3(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.792+1G>A rs267607934
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376

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