ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome II

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.3(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.3(MLH1):c.1410-2A>G rs746536721
NM_000249.3(MLH1):c.1633dup (p.Thr545fs) rs1553658104
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_001167617.2(MLH1):c.-433del rs587779045
NM_001167617.2(MLH1):c.-7del rs1064795441
NM_001167618.2(MLH1):c.-399del rs1553641273
NM_001354629.1(MLH1):c.208-3445_208-3433del rs1057517543
NM_001354630.1(MLH1):c.1732-866del rs1559588540

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.