List of variants in gene PMS2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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: 45

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)	rs149202766	0.00142
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)	rs116349687	0.00088
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)	rs115670442	0.00048
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)	rs756883400	0.00038
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	rs200513014	0.00026
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	rs587780046	0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)	rs370196722	0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)	rs375968016	0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	rs201343342	0.00016
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)	rs374704824	0.00013
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)	rs587781909	0.00007
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)	rs143235330	0.00006
NM_000535.7(PMS2):c.353+6A>G	rs376449640	0.00006
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)	rs536111818	0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)	rs63751284	0.00004
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)	rs114185660	0.00003
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala)	rs587782500	0.00002
NM_000535.7(PMS2):c.2217G>A (p.Leu739=)	rs752718686	0.00002
NM_000535.7(PMS2):c.705+3A>G	rs764334813	0.00002
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)	rs543676323	0.00001
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe)	rs587782640	0.00001
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn)	rs876660139	0.00001
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)	rs762151417	0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)	rs762100304	0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)	rs749727182	0.00001
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)	rs760629688	0.00001
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe)	rs730881908	0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=)	rs368608818	0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)	rs775445157	0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)	rs587782852	0.00001
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile)	rs200513014
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)	rs1554298007
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)	rs63750668
NM_000535.7(PMS2):c.1760G>C (p.Ser587Thr)
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)	rs764252217
NM_000535.7(PMS2):c.1888A>G (p.Lys630Glu)	rs2128721764
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr)	rs1326865470
NM_000535.7(PMS2):c.23+3G>T	rs1408475000
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe)	rs1583281360
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly)	rs375968016
NM_000535.7(PMS2):c.2506G>C (p.Glu836Gln)
NM_000535.7(PMS2):c.251-11CT[2]
NM_000535.7(PMS2):c.475G>T (p.Val159Leu)	rs142416537
NM_000535.7(PMS2):c.531T>G (p.Ile177Met)	rs863224679
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg)	rs537024768

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