List of variants in gene PMS2 reported as benign for Lynch syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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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.1408C>T (p.Pro470Ser)	rs1805321	0.37107
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.538-223A>G	rs2345060	0.21434
NM_000535.5(PMS2):c.-154C>G	rs3735296	0.16495
NM_000535.7(PMS2):c.804-243G>A	rs2286680	0.16082
NM_000535.7(PMS2):c.1621= (p.Lys541=)	rs2228006	0.13518
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.2466T>C (p.Leu822=)	rs10000	0.11447
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_000535.5(PMS2):c.-195T>C	rs2302336	0.04915
NM_000535.7(PMS2):c.2006+6G>A	rs111905775	0.04390
NM_000535.7(PMS2):c.288C>T (p.Ala96=)	rs12532895	0.03944
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)	rs74902811	0.02492
NM_000535.7(PMS2):c.251-72A>G	rs117831773	0.02449
NM_000535.7(PMS2):c.1488C>T (p.His496=)	rs1805320	0.02307
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.52A>G (p.Ile18Val)	rs63750123	0.00861
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)	rs142230276	0.00117
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	rs17420802	0.00025
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)	rs1805325	0.00018
NM_000535.7(PMS2):c.993C>T (p.Cys331=)	rs186577215	0.00009
NM_000535.7(PMS2):c.*17G>C	rs556089649	0.00004
NM_000535.7(PMS2):c.1398C>T (p.Gly466=)	rs752666485	0.00001
NM_000535.5(PMS2):c.-93G>A	rs6976537
NM_000535.7(PMS2):c.*92dup	rs267608145
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.250+8G>A	rs1057520511
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)	rs747771951
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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