List of variants studied for Gastrointestinal defects and immunodeficiency syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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	gnomAD frequency
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs)	rs886042806
NM_020458.4(TTC7A):c.1288-1G>T	rs568082272
NM_020458.4(TTC7A):c.1355T>C (p.Leu452Pro)
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter)	rs1682321195
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter)	rs886042805
NM_020458.4(TTC7A):c.563G>A (p.Arg188His)	rs147471840

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.