ClinVar Miner

List of variants studied for autosomal recessive complex spastic paraplegia type 9B by OMIM

Included ClinVar conditions (4):

ALDH18A1-related de Barsy syndrome; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3
Autosomal recessive complex spastic paraplegia type 9B
Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	rs752669339	0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)	rs768323248	0.00001
NM_002860.4(ALDH18A1):c.1910T>C (p.Leu637Pro)	rs869320690

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.