List of variants in gene PMS2 reported as uncertain significance by Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	rs146176004	0.00059
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.1399G>A (p.Val467Ile)	rs373611083	0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	rs199739859	0.00007
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)	rs530993704	0.00007
NM_000535.7(PMS2):c.475G>A (p.Val159Met)	rs142416537	0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)	rs116314131	0.00006
NM_000535.7(PMS2):c.71A>C (p.His24Pro)	rs139233015	0.00005
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)	rs63750947	0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)	rs762100304	0.00001
NM_000535.7(PMS2):c.1855G>T (p.Asp619Tyr)	rs1179605136	0.00001
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)	rs777095030	0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)	rs730881919	0.00001
NM_000535.7(PMS2):c.353+4A>G	rs760538709	0.00001
NM_000535.7(PMS2):c.449C>T (p.Pro150Leu)	rs778119115	0.00001
NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln)	rs1783538909
NM_000535.7(PMS2):c.1187T>C (p.Met396Thr)	rs786202704
NM_000535.7(PMS2):c.1293G>C (p.Glu431Asp)	rs2128734164
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)	rs1805323
NM_000535.7(PMS2):c.1537A>T (p.Ser513Cys)	rs1583318731
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.2225A>G (p.Asn742Ser)	rs1270301186
NM_000535.7(PMS2):c.2479A>G (p.Met827Val)	rs876659537
NM_000535.7(PMS2):c.2500A>G (p.Met834Val)	rs1554292828
NM_000535.7(PMS2):c.619G>C (p.Gly207Arg)	rs368847322

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