ClinVar Miner

List of variants in gene TBX6 studied for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004608.4(TBX6):c.-49+34G>T rs3809627 0.40816
NM_004608.4(TBX6):c.354-762T>C rs115865007 0.00631
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_004608.4(TBX6):c.1010C>T (p.Pro337Leu) rs149105120 0.00295
NM_004608.4(TBX6):c.699G>C (p.Trp233Cys) rs61738521 0.00048
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) rs202193096 0.00010
NM_004608.4(TBX6):c.356G>A (p.Arg119His) rs200175825 0.00007
NM_004608.4(TBX6):c.1112C>T (p.Pro371Leu) rs749373395 0.00006
NM_004608.4(TBX6):c.700G>C (p.Gly234Arg) rs376817900 0.00004
NM_004608.4(TBX6):c.1133G>A (p.Arg378His) rs756921502 0.00003
NM_004608.4(TBX6):c.499C>T (p.Arg167Cys) rs760006939 0.00001
NM_004608.4(TBX6):c.844C>T (p.Arg282Ter) rs201620629 0.00001
NM_004608.3(TBX6):c.[-48-240A>G;-49+34G>T;1227G>A]
NM_004608.4(TBX6):c.1018_1019del (p.Leu340fs)
NM_004608.4(TBX6):c.1143dup (p.Tyr382fs) rs2151031013
NM_004608.4(TBX6):c.1148C>A (p.Ser383Ter) rs369015359
NM_004608.4(TBX6):c.1169dup (p.His391fs) rs879253776
NM_004608.4(TBX6):c.1174G>T (p.Gly392Trp) rs773515679
NM_004608.4(TBX6):c.1179_1180del (p.Gly395fs) rs879253857
NM_004608.4(TBX6):c.1184G>A (p.Gly395Asp) rs1596847759
NM_004608.4(TBX6):c.1250dup (p.Leu419fs) rs786204039
NM_004608.4(TBX6):c.1277G>T (p.Gly426Val) rs764233509
NM_004608.4(TBX6):c.1278C>T (p.Gly426=) rs577918214
NM_004608.4(TBX6):c.1300C>T (p.Pro434Ser) rs1200121314
NM_004608.4(TBX6):c.1309T>C (p.Ter437Arg)
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys) rs587777113
NM_004608.4(TBX6):c.221dup (p.Thr75fs) rs1567342899
NM_004608.4(TBX6):c.266dup (p.Val91fs) rs786204040
NM_004608.4(TBX6):c.373C>T (p.Arg125Ter)
NM_004608.4(TBX6):c.418C>T (p.Leu140Phe) rs1596853085
NM_004608.4(TBX6):c.424G>T (p.Asp142Tyr) rs1596853067
NM_004608.4(TBX6):c.440A>T (p.Asp147Val) rs1596853022
NM_004608.4(TBX6):c.448C>A (p.Arg150Ser)
NM_004608.4(TBX6):c.466_469dup (p.Arg157fs) rs773047088
NM_004608.4(TBX6):c.473_475dup (p.Trp158_Glu159insGly) rs1596852902
NM_004608.4(TBX6):c.704dup (p.Met236fs) rs758051786
NM_004608.4(TBX6):c.840-32TCA[4] rs3833842
NM_004608.4(TBX6):c.914-2A>C rs762321473
NM_004608.4(TBX6):c.929C>T (p.Pro310Leu) rs1596848757

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.