List of variants in gene MLH1 reported as uncertain significance for Hereditary breast ovarian cancer syndrome

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)	rs4986984	0.00007
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	rs63750760	0.00005
NM_000249.4(MLH1):c.794G>A (p.Arg265His)	rs63751448	0.00004
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)	rs2020872	0.00003
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)	rs63751597	0.00002
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)	rs587779954	0.00001
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)	rs63751713	0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)	rs63751070	0.00001
NM_000249.4(MLH1):c.589-17T>A	rs754180618	0.00001
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)	rs587781505	0.00001
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)	rs587779953
NM_000249.4(MLH1):c.163G>T (p.Gly55Cys)	rs1064796005
NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr)	rs267607866
NM_000249.4(MLH1):c.1892A>T (p.Asp631Val)	rs63750240
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)	rs63750825
NM_000249.4(MLH1):c.29G>T (p.Arg10Leu)	rs777971423
NM_000249.4(MLH1):c.589-9_589-6del	rs587779026
NM_000249.4(MLH1):c.790C>G (p.His264Asp)	rs63751597
NM_000249.4(MLH1):c.976G>T (p.Val326Leu)	rs730881739

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.