List of variants in gene AP5Z1, LOC129997864 studied for Hereditary spastic paraplegia 48

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014855.3(AP5Z1):c.*953T>C	rs11976063	0.11462
NM_014855.3(AP5Z1):c.*922C>T	rs11971749	0.04290
NM_014855.3(AP5Z1):c.*856G>A	rs148032002	0.01546
NM_014855.3(AP5Z1):c.*901C>T	rs112176131	0.01465
NM_014855.3(AP5Z1):c.*897G>A	rs572278037	0.00383
NM_014855.3(AP5Z1):c.*910G>A	rs773520179	0.00226
NM_014855.3(AP5Z1):c.*896C>T	rs886062356	0.00010
NM_014855.3(AP5Z1):c.*880C>T	rs535535946
NM_014855.3(AP5Z1):c.*940T>A	rs1219881668
NM_014855.3(AP5Z1):c.*965C>G	rs1337568762

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.