ClinVar Miner

List of variants studied for adrenoleukodystrophy by MGZ Medical Genetics Center

Included ClinVar conditions (3):

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1781-2A>G	rs2522302506
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)	rs1557052362
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)	rs1557052478
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)	rs2091711722

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.