List of variants in gene VANGL1 reported as uncertain significance for Caudal regression sequence

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138959.3(VANGL1):c.*5267G>A	rs75064936	0.00465
NM_138959.3(VANGL1):c.*3407dup	rs752251154	0.00056
NM_138959.3(VANGL1):c.*5351G>A	rs762453158	0.00014
NM_138959.3(VANGL1):c.*932dup	rs886045124	0.00008
NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys)	rs778860160	0.00003
NM_138959.3(VANGL1):c.*4731C>T	rs144489409
NM_138959.3(VANGL1):c.*4840T>C	rs886045144
NM_138959.3(VANGL1):c.*5441TC[3]	rs886045147
NM_138959.3(VANGL1):c.5639_5640del	rs886045148
NM_138959.3(VANGL1):c.*89TTC[2]	rs746915495
NM_138959.3(VANGL1):c.-247CGG[6]	rs886045116
NM_138959.3(VANGL1):c.-24C>T	rs886045118

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.