ClinVar Miner

List of variants reported as benign for Hereditary spastic paraplegia 31 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_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39866
NM_001371279.1(REEP1):c.784-19T>G rs141722767 0.02274
NM_001371279.1(REEP1):c.381C>T (p.Asn127=) rs36008495 0.00419
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) rs139806812 0.00403
NM_001371279.1(REEP1):c.784-16C>T rs182467924 0.00108
NM_001371279.1(REEP1):c.231G>A (p.Leu77=) rs139808535 0.00070
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001371279.1(REEP1):c.32+19C>G rs536482080 0.00050
NM_001371279.1(REEP1):c.106-12C>G rs781321099 0.00005
NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys) rs375445585 0.00003
NM_001371279.1(REEP1):c.32+19del rs2469203118
NM_001371279.1(REEP1):c.60G>A (p.Ala20=) rs186480337
NM_001371279.1(REEP1):c.784-18_784-15del rs760605373

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.