List of variants in gene MLH1 reported by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)	rs1553648058	0.00001
NM_000249.4(MLH1):c.116+1G>A	rs267607709
NM_000249.4(MLH1):c.1410-2A>G	rs746536721
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC	rs1559558071
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	rs63751657
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)	rs267607901
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)	rs2080891193
NM_000249.4(MLH1):c.538G>T (p.Val180Phe)	rs1559524603
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	rs63751711
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)	rs63750823
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)	rs63749827

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.