List of variants reported as pathogenic for Lynch syndrome by Mendelics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	rs63750636	0.00001
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)	rs63750735
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)	rs63750316
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)	rs41542214
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)	rs1559524405
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	rs63751711
NM_000249.4(MLH1):c.791-5T>G	rs267607788
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	rs587779075
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	rs63750086
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)	rs587779139
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)	rs1114167828
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)	rs63750291
NM_000251.3(MSH2):c.644del (p.Gln215fs)	rs1558459885
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)	rs267608154

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