ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome by Mendelics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000249.3(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.3(MLH1):c.1410-2A>G rs746536721
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter) rs1573437173
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001354630.1(MLH1):c.1732-866del rs1559588540

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.