List of variants in gene TBX5 reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_181486.4(TBX5):c.787G>A (p.Val263Met)	rs147405081	0.00423
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)	rs77357563	0.00382
NM_181486.4(TBX5):c.114C>T (p.Ser38=)	rs34014008	0.00194
NM_181486.4(TBX5):c.804C>G (p.Ala268=)	rs35110399	0.00143
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)	rs200461617	0.00054
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val)	rs530882236	0.00011
NM_181486.4(TBX5):c.786C>T (p.Thr262=)	rs375955080	0.00006
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn)	rs147077037	0.00005
NM_181486.4(TBX5):c.828C>T (p.Ser276=)	rs146908258	0.00003
NM_181486.4(TBX5):c.242+4A>G	rs886044059
NM_181486.4(TBX5):c.756-1G>C	rs1565927906

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.