ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome 1 by Mendelics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1058del (p.Lys353fs) rs1573456772
NM_000251.3(MSH2):c.1511-1G>T rs267607964
NM_000251.3(MSH2):c.174dup (p.Lys59fs) rs1672250622
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs) rs1573566488
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) rs1318630651
NM_000251.3(MSH2):c.2299del (p.Ser767fs) rs1573574024
NM_000251.3(MSH2):c.2332dup (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2352del (p.His785fs) rs1667395869
NM_000251.3(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828

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