List of variants reported as pathogenic for Lynch syndrome 1 by Pathway Genomics

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	rs63749843	0.00002
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	rs63749873	0.00001
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)	rs587783056
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)	rs63750342
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)	rs63751022
NM_000249.4(MLH1):c.2154_2155dup (p.Ile719fs)	rs63750971
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	rs63750781
NM_000251.3(MSH2):c.1271dup (p.His424fs)	rs587783055
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)	rs63750849
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250

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.