List of variants reported as pathogenic for Adrenoleukodystrophy by Johns Hopkins Genomics, Johns Hopkins University

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	rs128624225	0.00001
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)	rs128624219
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter)	rs1603234501
NM_000033.4(ABCD1):c.1225-7_1239del	rs1569541009
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)	rs1603235321
NM_000033.4(ABCD1):c.1635-1G>A	rs1603235389
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	rs1557054873
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	rs150346282
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)	rs11146842
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)	rs1064793877
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	rs1569541203
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	rs193922098
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)	rs387906496

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.