List of variants reported as likely pathogenic for Mismatch repair cancer syndrome 1

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2521del (p.Trp841fs)	rs886039646	0.00003
NM_000535.7(PMS2):c.593dup (p.Arg199fs)	rs267608148	0.00001
GRCh37/hg19 2p16.3(chr2:48018016-48028344)x3
NM_000179.3(MSH6):c.3685_3686insCCAA (p.Asn1229fs)	rs2104538773
NM_000535.7(PMS2):c.1145-31_1145-13del	rs751973268
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)	rs587780724
NM_000535.7(PMS2):c.250+1G>C	rs1785410333
NM_000535.7(PMS2):c.538-20_803+19dup

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