ClinVar Miner

List of variants in gene TBX5 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 0.00011
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu) rs1085307848 0.00010
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.828C>T (p.Ser276=) rs146908258 0.00003
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.712G>A (p.Gly238Ser) rs1593866534 0.00001
NM_181486.4(TBX5):c.101C>A (p.Ala34Asp) rs761952835
NM_181486.4(TBX5):c.1033A>G (p.Thr345Ala)
NM_181486.4(TBX5):c.1384G>T (p.Ala462Ser)
NM_181486.4(TBX5):c.1407_1441del (p.Gln469fs) rs2136359363
NM_181486.4(TBX5):c.148-3C>A
NM_181486.4(TBX5):c.1507C>T (p.His503Tyr)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.192G>T (p.Trp64Cys) rs1555226581
NM_181486.4(TBX5):c.194T>C (p.Leu65Pro)
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) rs1871830806
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.295A>G (p.Lys99Glu)
NM_181486.4(TBX5):c.433G>A (p.Gly145Arg) rs1555226320
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp) rs1871568678
NM_181486.4(TBX5):c.506G>A (p.Gly169Glu)
NM_181486.4(TBX5):c.623A>T (p.Glu208Val) rs2136410771

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.