List of variants reported as benign for X-linked chondrodysplasia punctata 1 by Invitae

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: 14

Download table as spreadsheet

HGVS	dbSNP
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg)	rs201424543
NM_000047.2(ARSL):c.157A>G (p.Ile53Val)	rs61733256
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser)	rs142375403
NM_000047.2(ARSL):c.430+8C>T	rs56393981
NM_000047.2(ARSL):c.548G>A (p.Arg183His)	rs34412194
NM_000047.2(ARSL):c.775C>G (p.His259Asp)	rs138149353
NM_000047.2(ARSL):c.78A>G (p.Ala26=)	rs35718384
NM_000047.3(ARSL):c.1289+9C>T	rs375386476
NM_000047.3(ARSL):c.1386C>T (p.His462=)	rs183018622
NM_000047.3(ARSL):c.1408G>C (p.Asp470His)	rs61743737
NM_000047.3(ARSL):c.220G>A (p.Val74Met)	rs150756612
NM_000047.3(ARSL):c.23+5G>C	rs200062390
NM_000047.3(ARSL):c.714C>T (p.Leu238=)	rs34795651
NM_000047.3(ARSL):c.840G>A (p.Ala280=)	rs772678789

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.