List of variants reported as pathogenic for colorectal cancer by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	rs587778998	0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	rs63750871	0.00001
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	rs63750138
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)	rs766905993
NM_000179.3(MSH6):c.3647-1G>A	rs587779279
NM_000249.4(MLH1):c.1039-1G>T
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	rs587779075
NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	rs141577476

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