List of variants in gene ABCD1 reported as pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)	rs398123102	0.00001
NM_000033.4(ABCD1):c.1045del (p.Val349fs)	rs2091726859
NM_000033.4(ABCD1):c.104del (p.Leu35fs)	rs2091703332
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	rs387906494
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1849C>G (p.Arg617Gly)	rs4010613
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	rs1569541203
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)	rs1304001811
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)

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.