ClinVar Miner

List of variants reported as likely pathogenic by Constitutional Genetics Lab,Leon Berard Cancer Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000179.3(MSH6):c.1372C>A (p.His458Asn)
NM_000179.3(MSH6):c.1615C>T rs1553412999
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000249.3(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.3(MLH1):c.790+4A>C rs267607786
NM_000249.3(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.4(MLH1):c.152T>A (p.Val51Asp)
NM_000249.4(MLH1):c.1668T>G (p.Ser556Arg)
NM_000249.4(MLH1):c.647T>A (p.Ile216Asn)
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.2228C>T rs63751155

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.