List of variants studied for Lynch syndrome by GenomeConnect, ClinGen

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)	rs145649774	0.00006
NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)	rs1482767334	0.00001
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)	rs587781510	0.00001
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)	rs770625733	0.00001
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)	rs758699749
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)	rs975991506
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	rs267608078
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu)	rs1060500691
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)	rs63750951
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)	rs1064794704
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	rs267608150
NM_002354.3(EPCAM):c.-1C>G	rs533255660
Single allele

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