ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000249.3(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.3(MLH1):c.1732-2A>G rs267607852
NM_000249.3(MLH1):c.1907_1920del (p.Leu636fs) rs1553663750
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.2032A>T (p.Lys678Ter) rs1553664436
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.3(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.381-1G>C rs267607744
NM_000249.3(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.3(MLH1):c.960_964dup (p.Ile322fs) rs1553648047

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.