ClinVar Miner

List of variants in gene SPG7 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_003119.4(SPG7):c.1936+13G>A rs147242721 0.00061
NM_003119.4(SPG7):c.1593C>T (p.His531=) rs61747706 0.00047
NM_003119.4(SPG7):c.1450-16C>T rs376654147 0.00019
NM_003119.4(SPG7):c.1764G>A (p.Thr588=) rs373536584 0.00017
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
NM_003119.4(SPG7):c.1053C>T (p.Pro351=) rs762689331 0.00009
NM_003119.4(SPG7):c.2103+7C>T rs372981678 0.00008
NM_003119.4(SPG7):c.*7G>A rs766670092 0.00007
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647 0.00006
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.4(SPG7):c.1553-6T>G rs778948827 0.00004
NM_003119.4(SPG7):c.504C>T (p.Asn168=) rs151078862 0.00001
NM_003119.4(SPG7):c.1155C>T (p.Leu385=)
NM_003119.4(SPG7):c.1324+4208G>A
NM_003119.4(SPG7):c.1324+4224C>T
NM_003119.4(SPG7):c.184-3C>A
NM_003119.4(SPG7):c.558G>C (p.Val186=) rs754129188

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.