ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000179.3(MSH6):c.3338T>G (p.Ile1113Ser) rs41295272
NM_000179.3(MSH6):c.4064_4065insGTCA (p.Leu1356fs) rs267608141
NM_000249.4(MLH1):c.1612T>G (p.Trp538Gly) rs1559575214
NM_000249.4(MLH1):c.1731+6T>G rs587778940
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.2269T>A (p.Ter757Lys) rs587778995
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000251.3(MSH2):c.1277-14C>G rs267607951
NM_000251.3(MSH2):c.1662-18T>C rs376235435
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.1A>T (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2740G>T (p.Glu914Ter) rs267608024
NM_000251.3(MSH2):c.2797dup (p.Thr933fs) rs587779156
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335

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