List of variants in gene TBX5 reported as benign for aortic valve 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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_181486.4(TBX5):c.309C>T (p.Leu103=)	rs28730763	0.04319
NM_181486.4(TBX5):c.148-19T>A	rs80026530	0.01865
NM_181486.4(TBX5):c.1281C>T (p.Ser427=)	rs6489957	0.01766
NM_181486.4(TBX5):c.982+16C>T	rs28730762	0.00694
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.1234G>A (p.Val412Ile)	rs114124210	0.00301
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.316A>G (p.Ile106Val)	rs147710408	0.00086
NM_181486.4(TBX5):c.747A>G (p.Arg249=)	rs138552878	0.00051
NM_181486.4(TBX5):c.354T>C (p.Asp118=)	rs151249768	0.00039
NM_181486.4(TBX5):c.948G>A (p.Glu316=)	rs767086503	0.00028
NM_181486.4(TBX5):c.147+13C>A	rs201290379	0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=)	rs141457646	0.00024
NM_181486.4(TBX5):c.1152G>A (p.Ala384=)	rs200073406	0.00009
NM_181486.4(TBX5):c.1545C>T (p.Ser515=)	rs186780790	0.00007
NM_181486.4(TBX5):c.786C>T (p.Thr262=)	rs375955080	0.00006
NM_181486.4(TBX5):c.1425C>G (p.Gly475=)	rs199729532	0.00004
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)	rs145365553	0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=)	rs567785340	0.00003
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln)	rs557758851	0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=)	rs117965596	0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met)	rs200382742	0.00001
NM_181486.4(TBX5):c.1157C>A (p.Pro386His)	rs771857554
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
NM_181486.4(TBX5):c.613G>T (p.Val205Phe)	rs190881877

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.