ClinVar Miner

List of variants reported as likely benign for Multiple mitochondrial dysfunctions syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.167-13T>G rs181762580 0.00058
NM_001002755.4(NFU1):c.303-19A>G rs141033711 0.00031
NM_001002755.4(NFU1):c.62+10G>A rs773351968 0.00016
NM_001002755.4(NFU1):c.545+11C>T rs775731328 0.00015
NM_001002755.4(NFU1):c.545+9T>C rs767405381 0.00015
NM_001002755.4(NFU1):c.546-16T>C rs750424685 0.00004
NM_001002755.4(NFU1):c.702G>A (p.Glu234=) rs561482249 0.00003
NM_001002755.4(NFU1):c.528G>A (p.Leu176=) rs368931176 0.00002
NM_001002755.4(NFU1):c.300T>C (p.Ala100=) rs201828730 0.00001
NM_001002755.4(NFU1):c.370-4A>G rs1673014101 0.00001
NM_001002755.4(NFU1):c.545+7G>T rs750179976 0.00001
NM_001002755.4(NFU1):c.699G>A (p.Pro233=) rs200732109 0.00001
NM_001002755.4(NFU1):c.19C>A (p.Arg7=)
NM_001002755.4(NFU1):c.207A>G (p.Pro69=)
NM_001002755.4(NFU1):c.240T>A (p.Val80=)
NM_001002755.4(NFU1):c.303-19A>T
NM_001002755.4(NFU1):c.303-4G>A
NM_001002755.4(NFU1):c.313A>C (p.Arg105=)
NM_001002755.4(NFU1):c.324A>C (p.Gly108=)
NM_001002755.4(NFU1):c.370-4A>T rs1673014101
NM_001002755.4(NFU1):c.370-7T>C
NM_001002755.4(NFU1):c.370-8G>A
NM_001002755.4(NFU1):c.39T>G (p.Ala13=)
NM_001002755.4(NFU1):c.484+7T>A
NM_001002755.4(NFU1):c.485-20T>A
NM_001002755.4(NFU1):c.485-8_485-5del rs769116545
NM_001002755.4(NFU1):c.526T>C (p.Leu176=)
NM_001002755.4(NFU1):c.546-16T>G rs750424685
NM_001002755.4(NFU1):c.62+12G>A
NM_001002755.4(NFU1):c.62+14C>G rs370979719
NM_001002755.4(NFU1):c.62+14C>T rs370979719
NM_001002755.4(NFU1):c.63-4G>A
NM_001002755.4(NFU1):c.69T>C (p.Cys23=) rs2104814012
NM_001002755.4(NFU1):c.708A>G (p.Glu236=)
NM_001002755.4(NFU1):c.721-8G>C rs1672329270

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.