ClinVar Miner

List of variants studied for mitochondrial complex II deficiency, nuclear type 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):

Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 1
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma-paraganglioma; Paragangliomas 5
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	rs9809219	0.00001
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)	rs1302547655	0.00001
NM_004168.4(SDHA):c.1244C>T (p.Thr415Ile)
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)	rs1735550179

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.