List of variants studied for Meckel syndrome by 3billion

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

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)	rs371662397	0.00003
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg)	rs886059186	0.00002
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.959-5C>A	rs765242131
NM_025114.4(CEP290):c.1623+1G>A	rs863225186
NM_025114.4(CEP290):c.4860del (p.Phe1620fs)	rs2137155245
NM_153704.6(TMEM67):c.1174C>T (p.Pro392Ser)

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.