List of variants studied for Lynch syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)	rs147852216	0.00010
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	rs63750809	0.00007
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)	rs587779154	0.00001
NM_000179.3(MSH6):c.2365A>C (p.Asn789His)	rs2104402954
NM_000249.4(MLH1):c.156del (p.Glu53fs)	rs63750028
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	rs63751247
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)	rs63749792
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)	rs63749939
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)	rs63750266
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)	rs63751665
NM_000249.4(MLH1):c.790+2T>A	rs267607790
NM_000249.4(MLH1):c.884+6G>A	rs1575496158
NM_000251.3(MSH2):c.337A>T (p.Lys113Ter)	rs1573437064
NM_001040108.2(MLH3):c.2312A>T (p.Glu771Val)
NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)

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