List of variants reported as likely benign for Lynch syndrome 4 by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	rs63750123	0.00861
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)	rs200313585	0.00088
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)	rs139194813	0.00041
NM_000535.7(PMS2):c.706-3C>T	rs1229860023	0.00030
NM_000535.7(PMS2):c.255G>A (p.Leu85=)	rs200491279	0.00013
NC_000007.14:g.6009094A>G	rs746329908	0.00009
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)	rs112902065	0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=)	rs371342884	0.00007
NM_000535.7(PMS2):c.1047G>A (p.Lys349=)	rs1422380612	0.00001
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)	rs876660834	0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)	rs1060503111	0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=)	rs200439295	0.00001
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.353+7C>G	rs1057520512
NM_000535.7(PMS2):c.538-8T>C	rs922948916

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.