ClinVar Miner

List of variants in gene MSH2 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: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000251.2:c.1760_2458del
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.3(MSH2):c.1076+1dup rs1673083690
NM_000251.3(MSH2):c.1229del (p.Gly410fs) rs1553356700
NM_000251.3(MSH2):c.1384dup (p.Gln462fs) rs2103760063
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1593del (p.Val532fs) rs1558511051
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs) rs1114167835
NM_000251.3(MSH2):c.1927del (p.Glu643fs) rs1667245819
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter) rs730881769
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.645+2T>G rs876658996
NM_000251.3(MSH2):c.792+2T>G rs587782408
NM_000251.3(MSH2):c.871_872dup (p.Leu291_Thr292insTer)
NM_000251.3(MSH2):c.922_925dup (p.Ala309fs)
NM_000251.3(MSH2):c.961_1006del (p.Thr321fs) rs1553353114

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.