ClinVar Miner

List of variants in gene TBX5 reported as benign for Holt-Oram syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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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

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