List of variants in gene PMS2 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	rs146176004	0.00059
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)	rs375289386	0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	rs200513014	0.00026
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)	rs374704824	0.00013
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	rs199739859	0.00008
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)	rs146848345	0.00003
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)	rs138222146	0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs)	rs886039646	0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)	rs786201878	0.00003
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)	rs587782665	0.00001
NM_000535.7(PMS2):c.2144A>C (p.His715Pro)	rs773913260
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile)	rs1064794097
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)	rs587779345
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr)	rs1554300806
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)	rs1805322
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg)	rs1277038817

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