List of variants reported as likely pathogenic for mitochondrial complex II deficiency, nuclear type 1 by Fulgent Genetics, Fulgent Genetics

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)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004168.4(SDHA):c.1432_1432+1del	rs878854627	0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	rs9809219	0.00001
NM_004168.4(SDHA):c.1663+1G>T	rs766667009	0.00001
NM_004168.4(SDHA):c.1579del (p.Arg527fs)	rs1579437839
NM_004168.4(SDHA):c.1663+1G>A	rs766667009
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)	rs750380279
NM_004168.4(SDHA):c.456+1G>A	rs1579384604
NM_004168.4(SDHA):c.484del (p.Arg162fs)	rs1734988578
NM_004168.4(SDHA):c.688del (p.Glu230fs)	rs1553998199
NM_004168.4(SDHA):c.762_770+17del	rs1041809852

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.