List of variants in gene PMS2 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 51

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)	rs143340522	0.00192
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)	rs149202766	0.00142
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	rs201671325	0.00072
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.53T>C (p.Ile18Thr)	rs201343342	0.00016
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)	rs63750649	0.00013
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)	rs63751300	0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	rs116788608	0.00011
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)	rs530993704	0.00008
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)	rs116314131	0.00006
NM_000535.7(PMS2):c.475G>A (p.Val159Met)	rs142416537	0.00004
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)	rs63750686	0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)	rs876661233	0.00003
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)	rs148270248	0.00002
NM_000535.7(PMS2):c.2174+6T>C	rs587780050	0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)	rs587782671	0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)	rs574371474	0.00002
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)	rs767775907	0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)	rs587782633	0.00002
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)	rs376142390	0.00001
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)	rs760629688	0.00001
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)	rs1306035279	0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)	rs752284380	0.00001
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile)	rs587781541	0.00001
NM_000535.7(PMS2):c.502G>A (p.Val168Met)	rs762645507	0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His)	rs730881917	0.00001
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp)	rs368043334	0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)	rs375507981	0.00001
NM_000535.7(PMS2):c.904G>T (p.Val302Phe)	rs755960629	0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)	rs186448384	0.00001
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)	rs1562637025
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)	rs587778616
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)	rs146848345
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)	rs63750686
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)	rs764749700
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)	rs1060503126
NM_000535.7(PMS2):c.1898A>G (p.His633Arg)	rs63750024
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)	rs1554295980
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr)	rs747494931
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)	rs773393960
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)	rs1060503124
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)	rs587780060
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)	rs748141595
NM_000535.7(PMS2):c.706-3delinsTA	rs1436961952
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)	rs587780061
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe)	rs1554301543
NM_000535.7(PMS2):c.75G>T (p.Gln25His)	rs1554306525
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys)	rs372172981
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys)	rs143277125

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