ClinVar Miner

List of variants in gene SPG7 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.987+5A>G rs4785691

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.