List of variants reported as likely pathogenic for Muir-Torre syndrome

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	rs63751275	0.00001
NM_000249.4(MLH1):c.1559-1G>C	rs267607837
NM_000249.4(MLH1):c.1897-2A>G	rs267607871
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	rs63750610
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	rs550890395
NM_000249.4(MLH1):c.208-3C>G	rs267607720
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)	rs397514684
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del)	rs786201988
NM_000249.4(MLH1):c.589-1G>A	rs587779027
NM_000249.4(MLH1):c.589-1G>T	rs587779027
NM_000249.4(MLH1):c.816del (p.Arg273fs)	rs2125837110
NM_000251.3(MSH2):c.1276+1G>T	rs267607950
NM_000251.3(MSH2):c.1661+1G>T	rs267607969
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)	rs63750597
NM_000251.3(MSH2):c.2073del (p.Ile691fs)
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)

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