ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome; Curry-Hall syndrome by Fulgent Genetics,Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924
NM_147127.5(EVC2):c.1470+3A>T	rs370769794
NM_147127.5(EVC2):c.2047-2A>G	rs1553833239
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)	rs144420242
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)	rs751356206
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)	rs145425340

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.