List of variants in gene PMS2 reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)	rs2228006	0.86482
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.903+144G>T	rs12702462	0.15665
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_000535.7(PMS2):c.903+100T>G	rs12534423	0.04879
NM_000535.7(PMS2):c.903+84C>T	rs3815383	0.04877
NM_000535.7(PMS2):c.2006+6G>A	rs111905775	0.04390
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)	rs74902811	0.02492
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.1557T>C (p.Tyr519=)	rs6972869	0.01065
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	rs1805318	0.01006
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)	rs141458772	0.00560
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)	rs115052399	0.00370
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)	rs138049175	0.00348
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.*17G>C	rs556089649	0.00004
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.706-4dup	rs60794673
NM_000535.7(PMS2):c.706-6_706-4del	rs60794673

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