List of variants studied for Mitochondrial complex II deficiency, nuclear type 1 by Baylor Genetics

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)	rs768768823	0.00007
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)	rs746165168	0.00001
NM_001042631.3(SDHAF1):c.*5C>A	rs1234271175
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)	rs372989971
NM_004168.4(SDHA):c.1432+1G>C	rs878854628
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)	rs1579381851

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.