List of variants studied for craniofrontonasal syndrome by OMIM

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
NG_008887.1:g.(6109_14537)_(16741_?)del
NM_004429.5(EFNB1):c.109T>G (p.Trp37Gly)	rs104894802
NM_004429.5(EFNB1):c.110G>A (p.Trp37Ter)	rs104894803
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)	rs104894801
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter)	rs104894804
NM_004429.5(EFNB1):c.332C>T (p.Thr111Ile)	rs104894796
NM_004429.5(EFNB1):c.451G>A (p.Gly151Ser)	rs28936069
NM_004429.5(EFNB1):c.452G>T (p.Gly151Val)	rs28936070
NM_004429.5(EFNB1):c.472A>G (p.Met158Val)	rs28936071
NM_004429.5(EFNB1):c.474G>T (p.Met158Ile)	rs28935170
NM_004429.5(EFNB1):c.496C>T (p.Gln166Ter)	rs587777109

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.