ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome 1 by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.4(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000251.3(MSH2):c.1510G>C (p.Gly504Arg) rs63751600
NM_000251.3(MSH2):c.2005G>C (p.Gly669Arg) rs63751668
NM_000251.3(MSH2):c.792G>C (p.Gln264His) rs587779183

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