ClinVar Miner

List of variants reported as benign for Hereditary sensory and autonomic neuropathy with spastic paraplegia by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_012073.5(CCT5):c.738G>A (p.Ala246=) rs11557649 0.03346
NM_012073.5(CCT5):c.332-18C>G rs11741923 0.01963
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
NM_012073.5(CCT5):c.1194G>A (p.Ala398=) rs113262482 0.00768
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_012073.5(CCT5):c.1350G>A (p.Ala450=) rs142127415 0.00195
NM_012073.5(CCT5):c.874-16G>T rs80019852 0.00089
NM_012073.5(CCT5):c.332-19_332-16del rs376551309

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.