List of variants reported as pathogenic for colorectal cancer by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	rs63751275	0.00001
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	rs63750540
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	rs267608150
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)	rs573125799
NM_000535.7(PMS2):c.903+1G>C	rs1554300689
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)	rs143277125

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