List of variants in gene PMS2 reported as likely benign by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 47

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)	rs63750055	0.00784
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.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	rs201671325	0.00072
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)	rs201167814	0.00039
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	rs200513014	0.00026
NM_000535.7(PMS2):c.1242C>T (p.Asp414=)	rs142839559	0.00025
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)	rs63751132	0.00021
NM_000535.7(PMS2):c.-7T>C	rs199660792	0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	rs201343342	0.00016
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)	rs63750649	0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=)	rs200491279	0.00013
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)	rs138697590	0.00012
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)	rs114090343	0.00010
NM_000535.7(PMS2):c.1656T>C (p.His552=)	rs113726095	0.00008
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)	rs112902065	0.00007
NM_000535.7(PMS2):c.1145-10G>A	rs533551639	0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)	rs150201462	0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)	rs368516768	0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=)	rs147701251	0.00006
NM_000535.7(PMS2):c.1197G>A (p.Lys399=)	rs757730609	0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)	rs752950007	0.00004
NM_000535.7(PMS2):c.2334C>T (p.Phe778=)	rs768674294	0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)	rs553286217	0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)	rs576055272	0.00004
NM_000535.7(PMS2):c.705+12C>T	rs368486366	0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=)	rs116481522	0.00004
NM_000535.7(PMS2):c.1629C>T (p.Asp543=)	rs111673299	0.00002
NM_000535.7(PMS2):c.706-13T>C	rs730881918	0.00002
NM_000535.7(PMS2):c.114G>A (p.Ala38=)	rs558032755	0.00001
NM_000535.7(PMS2):c.1360C>T (p.Leu454=)	rs1338448094	0.00001
NM_000535.7(PMS2):c.2148C>T (p.Thr716=)	rs748404138	0.00001
NM_000535.7(PMS2):c.2265C>T (p.Ile755=)	rs145646046	0.00001
NM_000535.7(PMS2):c.480G>A (p.Gln160=)	rs1426242773	0.00001
NM_000535.7(PMS2):c.496C>T (p.Leu166=)	rs876659249	0.00001
NM_000535.7(PMS2):c.1188G>A (p.Met396Ile)	rs1170825702
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)	rs587780041
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)	rs1805318
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)	rs546441038
NM_000535.7(PMS2):c.21G>C (p.Ser7=)	rs587780726
NM_000535.7(PMS2):c.23+16A>G	rs1554308921
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)	rs371673459
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)	rs747771951
NM_000535.7(PMS2):c.396A>G (p.Gly132=)	rs786201073
NM_000535.7(PMS2):c.7C>A (p.Arg3=)	rs763939668
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)	rs530021751

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