List of variants reported as pathogenic for 3-Methylglutaconic aciduria type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.143-1G>A	rs80356523
NM_025136.4(OPA3):c.143-1G>C	rs80356523
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	rs80356525
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)	rs80356526
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)	rs1969907819
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	rs28937899
NM_025136.4(OPA3):c.55del (p.Val19fs)
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.