List of variants reported as likely pathogenic for Adrenoleukodystrophy by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	rs1569541120	0.00002
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)	rs128624215	0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)	rs782293513	0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	rs782487174	0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)	rs782083931	0.00001
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)	rs1569541006
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)	rs2148399015
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)	rs1557055337
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)	rs886044882
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)	rs1569541207
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)	rs868953385
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	rs1569540704
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)	rs2091709505
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)	rs1569540665
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)	rs2148391915

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.