List of variants in gene MTO1 reported as benign for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012123.4(MTO1):c.1180T>C (p.Leu394=)	rs2036039	0.20359
NM_012123.4(MTO1):c.1918-7T>G	rs73452515	0.04248
NM_012123.4(MTO1):c.1894C>T (p.Leu632=)	rs117757245	0.00506
NM_012123.4(MTO1):c.1368T>C (p.Thr456=)	rs115654622	0.00454
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met)	rs147329295	0.00309
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala)	rs201279883	0.00085
NM_012123.4(MTO1):c.1637+16A>G	rs201990339	0.00034
NM_012123.4(MTO1):c.1059A>G (p.Leu353=)	rs201656868
NM_012123.4(MTO1):c.1917+17_1917+19del	rs760158320
NM_012123.4(MTO1):c.938+7=	rs7766570

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.