ClinVar Miner

List of variants in gene TBX5 reported as pathogenic for not provided

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.40C>A (p.Pro14Thr) rs773397553 0.00002
NM_181486.4(TBX5):c.373G>C (p.Gly125Arg) rs863223773 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
GRCh37/hg19 12q24.21(chr12:114756557-114871208)x1
NM_181486.4(TBX5):c.1078C>T (p.Gln360Ter) rs1064794062
NM_181486.4(TBX5):c.1081C>T (p.Gln361Ter) rs1868888758
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter) rs863223777
NM_181486.4(TBX5):c.148-1G>C
NM_181486.4(TBX5):c.164_165del (p.Lys55fs) rs1555226588
NM_181486.4(TBX5):c.178G>T (p.Glu60Ter) rs1064794030
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) rs1555226581
NM_181486.4(TBX5):c.202del (p.His68fs) rs1057518199
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter) rs104894377
NM_181486.4(TBX5):c.242+1G>A rs2136421421
NM_181486.4(TBX5):c.300del (p.Lys99_Tyr100insTer) rs1555226412
NM_181486.4(TBX5):c.338G>A (p.Arg113Lys) rs483353129
NM_181486.4(TBX5):c.408C>G (p.Tyr136Ter) rs104894379
NM_181486.4(TBX5):c.420_432del (p.Asp140fs) rs863223783
NM_181486.4(TBX5):c.421_443delinsCCAGGA (p.Ser141fs) rs863223784
NM_181486.4(TBX5):c.436del (p.Ala146fs)
NM_181486.4(TBX5):c.456del (p.Val153fs) rs1057520136
NM_181486.4(TBX5):c.466del (p.Gln156fs) rs886041606
NM_181486.4(TBX5):c.468_484del (p.Lys157fs) rs863223785
NM_181486.4(TBX5):c.473_476del (p.Leu158fs) rs1555226305
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.587C>G (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.611dup (p.His204fs) rs863223786
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.670C>T (p.Gln224Ter) rs1057517833
NM_181486.4(TBX5):c.710G>C (p.Arg237Pro) rs104894378
NM_181486.4(TBX5):c.755G>A (p.Ser252Asn) rs863223776
NM_181486.4(TBX5):c.756-1G>C rs1565927906
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.873C>A (p.Tyr291Ter)
NM_181486.4(TBX5):c.880G>T (p.Glu294Ter)

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