ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance for Lynch syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.790C>T (p.His264Tyr) rs63751597 0.00002
NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln) rs34213726 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000249.4(MLH1):c.4T>G (p.Ser2Ala) rs1448308275 0.00001
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) rs267607865
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.4(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008

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.