List of variants in gene TBX4 reported as pathogenic for bone disorder

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_001321120.2(TBX4):c.781C>T (p.Arg261Ter)	rs774711057	0.00001
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)	rs1603256040
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg)	rs28936696
NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter)	rs104894648
NM_001321120.2(TBX4):c.251del (p.Gly84fs)	rs1603248606
NM_001321120.2(TBX4):c.281+1G>T	rs1555881112
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)	rs1603251001
NM_001321120.2(TBX4):c.355dup (p.Ile119fs)	rs1569036773
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn)	rs2143821228
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)	rs1603251494
NM_001321120.2(TBX4):c.549+1G>A
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg)	rs886041115
NM_001321120.2(TBX4):c.743G>T (p.Gly248Val)	rs28938474
NM_001321120.2(TBX4):c.792-1G>C	rs1603255224

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.