List of variants reported as likely pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome by Fulgent Genetics, Fulgent Genetics

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)	rs767072839	0.00006
NM_147127.5(EVC2):c.706+2T>C	rs1360260333	0.00001
NM_147127.5(EVC2):c.893del (p.His298fs)	rs777505711	0.00001
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)	rs1367694162
NM_147127.5(EVC2):c.2047-2A>G	rs1553833239
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)	rs1577170055
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)	rs1368193719
NM_153717.3(EVC):c.2449+1G>A	rs1553893423
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	rs755381180

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.