ClinVar Miner

List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by 3billion, Medical Genetics

Included ClinVar conditions (11):

Fatal multiple mitochondrial dysfunctions syndrome
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
Multiple mitochondrial dysfunctions syndrome 3
Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 4
Multiple mitochondrial dysfunctions syndrome 5
Multiple mitochondrial dysfunctions syndrome 6
Multiple mitochondrial dysfunctions syndrome 7
Multiple mitochondrial dysfunctions syndrome 9b

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)	rs143492730	0.00004
NM_001010867.4(IBA57):c.724C>T (p.Pro242Ser)	rs923591178

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.