ClinVar Miner

List of variants in gene TBX5 reported as likely benign for not provided

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.148-231G>T rs117427226 0.02196
NM_181486.4(TBX5):c.147+194G>A rs79101327 0.01128
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_181486.4(TBX5):c.-38-237G>T rs143656484 0.00449
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_181486.4(TBX5):c.363-82G>A rs77112291 0.00403
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
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.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_181486.4(TBX5):c.696T>C (p.Phe232=) rs747652988 0.00003
NM_181486.4(TBX5):c.1230C>T (p.Cys410=) rs1463067493 0.00001
NM_181486.4(TBX5):c.983-10G>C rs766007057 0.00001
NM_181486.4(TBX5):c.-38-211T>C rs111555728
NM_181486.4(TBX5):c.1251C>T (p.Pro417=) rs1868865389
NM_181486.4(TBX5):c.243-7C>G rs1593881450
NM_181486.4(TBX5):c.362+233C>T rs112645043
NM_181486.4(TBX5):c.362+84_362+86dup rs55980450
NM_181486.4(TBX5):c.362+97_362+98del rs55980450
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.51T>C (p.Pro17=)
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.664-274del rs35970834
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.982+14C>T

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