List of variants studied for Lynch syndrome 4 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.780C>G (p.Ser260=)	rs1805319	0.82058
NM_000535.7(PMS2):c.705+17A>G	rs62456182	0.33782
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)	rs1802683	0.30966
NM_000535.7(PMS2):c.2007-4G>A	rs1805326	0.12350
NM_000535.7(PMS2):c.2007-7C>T	rs55954143	0.12135
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	rs10254120	0.07445
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)	rs1805323	0.05742
NM_000535.7(PMS2):c.2006+6G>A	rs111905775	0.04390
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)	rs2228007	0.02174
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)	rs1805324	0.01651
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)	rs63750055	0.00784
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	rs17420802	0.00025
NM_000535.7(PMS2):c.*17G>C	rs556089649	0.00004
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)	rs63750451	0.00002
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	rs63750685
NM_000535.7(PMS2):c.706-4del	rs60794673
NM_000535.7(PMS2):c.706-4dup	rs60794673
NM_000535.7(PMS2):c.706-5_706-4del	rs60794673

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