ClinVar Miner

List of variants in gene SPG7 reported as benign for Hereditary spastic paraplegia 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_003119.4(SPG7):c.286+46C>T rs3922633 0.43914
NM_003119.4(SPG7):c.376+4364C>T rs8052076 0.41223
NM_003119.4(SPG7):c.1450-29G>A rs462464 0.20021
NM_003119.4(SPG7):c.1779+47G>C rs3794632 0.19456
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_003119.4(SPG7):c.1449+19G>A rs79201073 0.07399
NM_003119.4(SPG7):c.1663+13C>T rs80324518 0.05587
NM_003119.4(SPG7):c.*33C>T rs60711430 0.03853
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711 0.02864
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_003119.4(SPG7):c.1770C>T (p.Ala590=) rs60488729 0.01823
NM_003119.4(SPG7):c.2037G>A (p.Ala679=) rs79756036 0.01778
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003119.4(SPG7):c.881G>A (p.Arg294His) rs115661328 0.01169
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_003119.4(SPG7):c.1936+12C>T rs112379588 0.00628
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_003119.4(SPG7):c.1779+20G>A rs145805850 0.00345
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_003119.4(SPG7):c.2181+19G>A rs201539829 0.00019
NM_003119.4(SPG7):c.862-16T>G rs199954282 0.00016
NM_003119.4(SPG7):c.1151-8C>T rs200402056 0.00003
NM_003119.4(SPG7):c.1664-11C>A rs574656941 0.00001
NM_003119.4(SPG7):c.1365G>A (p.Thr455=)
NM_003119.4(SPG7):c.1553-8_1553-7del rs567981282
NM_003119.4(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.4(SPG7):c.184-4del rs5818722
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.619-47G>A rs3935626
NM_003119.4(SPG7):c.862-34G>T rs4785690
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.