List of variants studied for Ellis-van Creveld syndrome by Rare Disease Group, Clinical Genetics,Karolinska Institutet

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His)	rs1559369181
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)	rs978909925
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp)	rs1560228138
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	rs121908425
NM_153717.3(EVC):c.175-9G>A	rs753317536
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)	rs201780665

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.