List of variants reported as likely pathogenic for colorectal neoplasm by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)	rs730881915	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	rs587779204
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)	rs746306598
NM_000179.3(MSH6):c.3173-1G>C	rs397515875
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)	rs1572747278
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)	rs730881830
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)	rs1572747685
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
NM_000251.3(MSH2):c.1760-1G>A	rs587779110
NM_000251.3(MSH2):c.2680dup (p.Met894fs)	rs876658211
NM_000535.7(PMS2):c.741del (p.Ser248fs)	rs1583374709
NM_000535.7(PMS2):c.903G>A (p.Lys301=)	rs267608153
Single allele

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