List of variants in gene combination MCFD2, TTC7A reported as likely benign for Multiple gastrointestinal atresias

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.162A>G (p.Ala54=)	rs776259833	0.00005
NM_020458.4(TTC7A):c.102G>C (p.Arg34=)	rs1409686440	0.00003
NM_020458.4(TTC7A):c.12G>A (p.Lys4=)	rs1274237789	0.00001
NM_020458.4(TTC7A):c.132C>T (p.Gly44=)	rs1403661278	0.00001
NM_020458.4(TTC7A):c.184+7A>C	rs573720504	0.00001
NM_020458.4(TTC7A):c.106C>T (p.Leu36=)
NM_020458.4(TTC7A):c.108G>C (p.Leu36=)
NM_020458.4(TTC7A):c.145C>A (p.Arg49=)
NM_020458.4(TTC7A):c.15C>T (p.Gly5=)
NM_020458.4(TTC7A):c.21C>T (p.His7=)
NM_020458.4(TTC7A):c.27C>T (p.Ser9=)	rs1572670688
NM_020458.4(TTC7A):c.36G>A (p.Lys12=)	rs1187105862
NM_020458.4(TTC7A):c.81C>T (p.Asp27=)	rs2103887947
NM_020458.4(TTC7A):c.94C>T (p.Leu32=)	rs144050892

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.