ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1520_1521insTA (p.Leu507fs) rs1553653135
NM_000249.4(MLH1):c.1621G>C (p.Ala541Pro) rs1064793578
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731+5G>A rs267607850
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs) rs1064794331
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2103+1G>T rs267607888
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.230G>C (p.Cys77Ser) rs63750437
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.307-2A>G rs267607732
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706

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.