List of variants in gene MLH1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)	rs41295280	0.00016
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)	rs63751225	0.00010
NM_000249.4(MLH1):c.1558+5G>A	rs199935667	0.00008
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	rs63750796	0.00006
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)	rs267607840	0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)	rs63750266	0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)	rs367654552	0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His)	rs63751448	0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln)	rs587779959	0.00004
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)	rs56185292	0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)	rs63750102	0.00003
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)	rs63750062	0.00001
NM_000249.4(MLH1):c.1896+5G>A	rs759870594	0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)	rs63751070	0.00001
NM_000249.4(MLH1):c.452C>T (p.Thr151Met)	rs776969475	0.00001
NM_000249.4(MLH1):c.458A>G (p.Glu153Gly)	rs770023778	0.00001
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTA	rs535965616
NM_000249.4(MLH1):c.1388G>A (p.Gly463Glu)	rs2083457261
NM_000249.4(MLH1):c.1426G>A (p.Asp476Asn)	rs2083696231
NM_000249.4(MLH1):c.1668-3C>G	rs267607844
NM_000249.4(MLH1):c.1790G>T (p.Trp597Leu)	rs63750604
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)	rs267607885
NM_000249.4(MLH1):c.2221C>A (p.Leu741Met)	rs786203583
NM_000249.4(MLH1):c.437A>G (p.Gln146Arg)	rs1559521320
NM_000249.4(MLH1):c.585A>C (p.Lys195Asn)	rs2125805832
NM_000249.4(MLH1):c.868C>T (p.Pro290Ser)	rs1553646744

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.