List of variants in gene SPG7 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.233T>A (p.Leu78Ter)	rs121918358	0.00014
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	rs369227537	0.00010
NM_003119.4(SPG7):c.1552+1G>T	rs141644720	0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del	rs772828460	0.00003
NM_003119.4(SPG7):c.759-2A>G	rs770299071	0.00001
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.1867_1870del (p.Phe623fs)	rs2058651832
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)	rs2152412388
NM_003119.4(SPG7):c.2166_2167insCAACAACCTG (p.Asp723fs)	rs2058667949
NM_003119.4(SPG7):c.808del (p.Tyr270fs)

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.