ClinVar Miner

Variants with conflicting interpretations "pathogenic" from International Society for Gastrointestinal Hereditary Tumours (InSiGHT) and "likely pathogenic" from any submitter

Minimum review status of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT): Collection method of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.482T>A (p.Val161Asp) rs63750126
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.