List of variants in gene MLH1 reported by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	rs1799977	0.23048
NM_000249.4(MLH1):c.1558+14G>A	rs41562513	0.05554
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	rs2020873	0.02345
NM_000249.4(MLH1):c.1039-8T>A	rs193922367	0.01153
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)	rs55907433	0.00297
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)	rs63750365	0.00034
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)	rs63750702	0.00022
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	rs63750540
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)	rs587778920
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)	rs1553658104
NM_000249.4(MLH1):c.1685A>C (p.Gln562Pro)	rs1553659377
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	rs35502531
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)	rs876659681
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)	rs63750005
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)	rs1553644123
NM_000249.4(MLH1):c.885-21TC[2]	rs267607804

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.