List of variants reported as pathogenic for X-linked chondrodysplasia punctata 1 by OMIM

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: 8

Download table as spreadsheet

HGVS	dbSNP
NM_000047.2(ARSL):c.1475G>A (p.Cys492Tyr)	rs122460155
NM_000047.2(ARSL):c.1732C>T (p.Pro578Ser)	rs28935474
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714
NM_000047.2(ARSL):c.332G>C (p.Arg111Pro)	rs122460153
NM_000047.2(ARSL):c.349G>A (p.Gly117Arg)	rs122460152
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser)	rs122460151
NM_000047.2(ARSL):c.410G>T (p.Gly137Val)	rs80338711
NM_000047.2(ARSL):c.733G>C (p.Gly245Arg)	rs122460154

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.