ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.307-?_380+?del
NM_000249.3(MLH1):c.589-?_677+?del
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs) rs63750375
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del) rs63751642
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.4(MLH1):c.2179_2182del (p.His727fs) rs267607898
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.545+2T>C rs1575449402
NM_000249.4(MLH1):c.546-2A>G rs267607759
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+3A>G rs267607780
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793del (p.Arg265fs) rs863225384

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.