ClinVar Miner

List of variants in gene TBX5 reported as benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.*1101A>G rs6489956 0.80110
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_181486.4(TBX5):c.*77A>G rs28730761 0.07861
NM_000192.3(TBX5):c.-648C>G rs79465718 0.04439
NM_000192.3(TBX5):c.-305C>A rs78462880 0.04438
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_000192.3(TBX5):c.-39+12C>A rs11837917 0.04016
NM_181486.4(TBX5):c.*384T>C rs12426660 0.01798
NM_181486.4(TBX5):c.1281C>T (p.Ser427=) rs6489957 0.01766
NM_181486.4(TBX5):c.*812C>T rs143511878 0.01571
NM_181486.4(TBX5):c.*601G>A rs116382074 0.01559
NM_181486.4(TBX5):c.*40A>G rs10850326 0.01186
NM_000192.3(TBX5):c.-545C>T rs115599823 0.00666
NM_000192.3(TBX5):c.-586C>G rs76464487 0.00499
NM_000192.3(TBX5):c.-449G>C rs148864662 0.00454
NM_181486.4(TBX5):c.*673C>T rs140532076 0.00449
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.*480G>A rs569991822 0.00296
NM_000192.3(TBX5):c.-664G>A rs186960328 0.00248
NM_000192.3(TBX5):c.-377C>T rs372524573 0.00245
NM_181486.4(TBX5):c.*121A>G rs112051831 0.00220
NM_181486.4(TBX5):c.114C>T (p.Ser38=) rs34014008 0.00194
NM_181486.4(TBX5):c.*909A>G rs184360838 0.00190
NM_181486.4(TBX5):c.*524A>T rs76799455 0.00145
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.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_181486.4(TBX5):c.*1188T>C rs141223729 0.00051
NM_181486.4(TBX5):c.*306C>T rs571901755 0.00047
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_181486.4(TBX5):c.*1373G>T rs192527148 0.00038
NM_181486.4(TBX5):c.*739T>C rs117414057 0.00037
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_181486.4(TBX5):c.*960A>G rs566107581 0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=) rs141457646 0.00024
NM_181486.4(TBX5):c.*563G>A rs78058633 0.00013
NM_181486.4(TBX5):c.1152G>A (p.Ala384=) rs200073406 0.00009
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys) rs201071418 0.00004
NM_181486.4(TBX5):c.*4G>T rs745708633 0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp) rs377532269 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.363-6A>G rs757819289 0.00003
NM_181486.4(TBX5):c.*1331T>G rs535072534 0.00002
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.729G>T (p.Glu243Asp) rs186183947 0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met) rs200382742 0.00001
NM_000192.3(TBX5):c.-167G>A rs146645348
NM_181486.4(TBX5):c.*1385del rs35534655
NM_181486.4(TBX5):c.*97G>A rs883079

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.