ClinVar Miner

List of variants in gene TBX5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.*1101A>G rs6489956 0.80110
NM_181486.4(TBX5):c.983-146A>C rs2113433 0.79600
NM_181486.4(TBX5):c.243-324C>T rs1946299 0.72041
NM_181486.4(TBX5):c.-38-255T>C rs2113436 0.68487
NM_181486.4(TBX5):c.663+186A>G rs2236018 0.58134
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_000192.3(TBX5):c.-39+113A>G rs1248046 0.31120
NM_181486.4(TBX5):c.755+94C>A rs2277377 0.25733
NM_181486.4(TBX5):c.983-292A>G rs73201491 0.18971
NM_181486.4(TBX5):c.*77A>G rs28730761 0.07861
NM_181486.4(TBX5):c.148-206A>C rs76448968 0.04732
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_181486.4(TBX5):c.664-161T>C rs16944184 0.03898
NM_181486.4(TBX5):c.243-284T>C rs79492814 0.02260
NM_181486.4(TBX5):c.148-231G>T rs117427226 0.02196
NM_181486.4(TBX5):c.148-19T>A rs80026530 0.01865
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.*40A>G rs10850326 0.01186
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.663+34C>T rs114389588 0.00446
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.1234G>A (p.Val412Ile) rs114124210 0.00301
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.55G>T (p.Ala19Ser) rs200461617 0.00054
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.*739T>C rs117414057 0.00037
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 0.00011
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
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.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu) rs1085307848 0.00004
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.828C>T (p.Ser276=) rs146908258 0.00003
NM_181486.4(TBX5):c.40C>A (p.Pro14Thr) rs773397553 0.00002
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.1230C>T (p.Cys410=) rs1463067493 0.00001
NM_181486.4(TBX5):c.373G>C (p.Gly125Arg) rs863223773 0.00001
NM_181486.4(TBX5):c.696T>C (p.Phe232=) rs747652988 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181486.4(TBX5):c.712G>A (p.Gly238Ser) rs1593866534 0.00001
NM_181486.4(TBX5):c.983-10G>C rs766007057 0.00001
GRCh37/hg19 12q24.21(chr12:114756557-114871208)x1
NM_181486.4(TBX5):c.*97G>A rs883079
NM_181486.4(TBX5):c.-38-211T>C rs111555728
NM_181486.4(TBX5):c.101C>A (p.Ala34Asp) rs761952835
NM_181486.4(TBX5):c.1033A>G (p.Thr345Ala)
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.1115_1116dup (p.Ala373fs) rs1593836748
NM_181486.4(TBX5):c.1126C>T (p.Gln376Ter) rs863223778
NM_181486.4(TBX5):c.1140T>A (p.Tyr380Ter)
NM_181486.4(TBX5):c.1158del (p.Ser387fs) rs1064795870
NM_181486.4(TBX5):c.1251C>T (p.Pro417=) rs1868865389
NM_181486.4(TBX5):c.1384G>T (p.Ala462Ser)
NM_181486.4(TBX5):c.1407_1441del (p.Gln469fs) rs2136359363
NM_181486.4(TBX5):c.141C>T (p.Thr47=) rs564730479
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter) rs863223777
NM_181486.4(TBX5):c.1454_1455del (p.Pro485fs)
NM_181486.4(TBX5):c.148-1G>C
NM_181486.4(TBX5):c.148-2A>G rs1565942511
NM_181486.4(TBX5):c.148-3C>A
NM_181486.4(TBX5):c.1507C>T (p.His503Tyr)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
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.188del (p.Leu63fs) rs1555226584
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) rs1555226581
NM_181486.4(TBX5):c.192G>T (p.Trp64Cys) rs1555226581
NM_181486.4(TBX5):c.194T>C (p.Leu65Pro)
NM_181486.4(TBX5):c.202del (p.His68fs) rs1057518199
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter) rs104894377
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) rs1871830806
NM_181486.4(TBX5):c.242+1G>A rs2136421421
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.242+5G>A rs1555226575
NM_181486.4(TBX5):c.243-7C>G rs1593881450
NM_181486.4(TBX5):c.244C>A (p.Arg82=) rs1871673360
NM_181486.4(TBX5):c.250T>C (p.Phe84Leu) rs1131691460
NM_181486.4(TBX5):c.295A>G (p.Lys99Glu)
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.362+233C>T rs112645043
NM_181486.4(TBX5):c.362+84_362+86dup rs55980450
NM_181486.4(TBX5):c.362+84dup rs55980450
NM_181486.4(TBX5):c.362+97_362+98del rs55980450
NM_181486.4(TBX5):c.362+98del rs55980450
NM_181486.4(TBX5):c.376_402del (p.Lys126_Arg134del) rs863223782
NM_181486.4(TBX5):c.391A>G (p.Met131Val)
NM_181486.4(TBX5):c.408C>G (p.Tyr136Ter) rs104894379
NM_181486.4(TBX5):c.415C>A (p.Pro139Thr)
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.427G>A (p.Ala143Thr)
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.433G>A (p.Gly145Arg) rs1555226320
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.484A>G (p.Asn162Asp) rs1871568678
NM_181486.4(TBX5):c.506G>A (p.Gly169Glu)
NM_181486.4(TBX5):c.51T>C (p.Pro17=)
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
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.623A>T (p.Glu208Val) rs2136410771
NM_181486.4(TBX5):c.628G>C (p.Ala210Pro)
NM_181486.4(TBX5):c.629C>T (p.Ala210Val)
NM_181486.4(TBX5):c.664-274del rs35970834
NM_181486.4(TBX5):c.664-287_664-286dup rs35970834
NM_181486.4(TBX5):c.664-287dup rs35970834
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.676A>G (p.Lys226Glu) rs1131691932
NM_181486.4(TBX5):c.697G>C (p.Ala233Pro) rs1870766319
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.755G>C (p.Ser252Thr) 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.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.873C>A (p.Tyr291Ter)
NM_181486.4(TBX5):c.880G>T (p.Glu294Ter)
NM_181486.4(TBX5):c.910C>T (p.Leu304Phe)
NM_181486.4(TBX5):c.982+14C>T
NM_181486.4(TBX5):c.982+24A>G
NM_181486.4(TBX5):c.982+320_982+321dup rs56315440
NM_181486.4(TBX5):c.982+320dup rs56315440
NM_181486.4(TBX5):c.982+329_982+335del rs56315440
NM_181486.4(TBX5):c.982+335del rs56315440

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