ClinVar Miner

List of variants reported as pathogenic for Mismatch repair cancer syndrome 2 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs) rs2104042264
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter) rs63751274

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