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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.-27C>A	rs587779001
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)	rs1057517541
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)	rs63750443
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)	rs756843954
NM_000249.4(MLH1):c.1409+1_1409+6del	rs1057517617
NM_000249.4(MLH1):c.1731+1G>T	rs267607853
NM_000249.4(MLH1):c.1897-2A>G	rs267607871
NM_000249.4(MLH1):c.283del (p.Ser95fs)	rs1064795441
NM_000249.4(MLH1):c.325del (p.His109fs)	rs1553641273
NM_000249.4(MLH1):c.454-1G>C	rs193922370
NM_000249.4(MLH1):c.677+1G>A	rs267607778
NM_000249.4(MLH1):c.84del (p.Ala29fs)	rs587779045
NM_000249.4(MLH1):c.884+3A>G	rs267607803
NM_001354629.2(MLH1):c.208-3445_208-3433del	rs1057517543

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.