List of variants reported as pathogenic for Lynch syndrome 1 by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	rs63750871	0.00001
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)	rs63750075
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	rs63750019
NM_000249.4(MLH1):c.1003del (p.Leu335fs)	rs2082990862
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)	rs63751460
NM_000249.4(MLH1):c.1990-1G>C	rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	rs63750206
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)	rs63750561
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)	rs63750706
NM_000249.4(MLH1):c.790+1G>A	rs267607789
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)	rs63750393
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)	rs587779185
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	rs141577476

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