List of variants in gene TINF2 reported as uncertain significance for Revesz syndrome

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_001099274.3(TINF2):c.371C>T (p.Ala124Val)	rs369712095	0.00013
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)	rs779819186	0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)	rs779837822	0.00004
NM_001099274.3(TINF2):c.-277C>G	rs886050435	0.00003
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His)	rs371044766	0.00002
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro)	rs377436580	0.00001
NM_001099274.3(TINF2):c.*53G>A	rs886050429
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=)	rs886050430
NM_001099274.3(TINF2):c.1338_1339del (p.Asp446fs)
NM_001099274.3(TINF2):c.400-5del	rs769170035
NM_001099274.3(TINF2):c.517G>A (p.Val173Met)	rs2040569011
NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg)	rs2040562236
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr)	rs886050431
NM_012461.3(TINF2):c.-316G>A	rs886050436

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.