ClinVar Miner

List of variants in gene TBX5 studied for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
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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.-481T>C rs575879858 0.00277
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_000192.3(TBX5):c.-255G>T rs186472610 0.00100
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.68C>A (p.Pro23His) rs141609745 0.00019
NM_181486.4(TBX5):c.*795G>T rs886048991 0.00016
NM_181486.4(TBX5):c.*1446T>G rs576867150 0.00014
NM_181486.4(TBX5):c.*563G>A rs78058633 0.00013
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu) rs1085307848 0.00010
NM_181486.4(TBX5):c.*1344G>A rs1332937417 0.00009
NM_181486.4(TBX5):c.*1511G>A rs886048983 0.00009
NM_181486.4(TBX5):c.1152G>A (p.Ala384=) rs200073406 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_181486.4(TBX5):c.1116G>A (p.Ser372=) rs763827720 0.00007
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
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_000192.3(TBX5):c.-132G>A rs1280865262 0.00005
NM_181486.4(TBX5):c.*1071C>T rs890525823 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_181486.4(TBX5):c.*702T>C rs759107305 0.00004
NM_181486.4(TBX5):c.*875A>C rs886048987 0.00004
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys) rs201071418 0.00004
NM_181486.4(TBX5):c.*277C>T rs886048995 0.00003
NM_181486.4(TBX5):c.*4G>T rs745708633 0.00003
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp) rs377532269 0.00003
NM_181486.4(TBX5):c.145C>A (p.Gln49Lys) rs104894383 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.57A>G (p.Ala19=) rs567785340 0.00003
NM_181486.4(TBX5):c.618T>G (p.Phe206Leu) rs533581420 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_000192.3(TBX5):c.-403G>C rs985905532 0.00002
NM_181486.4(TBX5):c.*1111T>C rs886048985 0.00002
NM_181486.4(TBX5):c.*1331T>G rs535072534 0.00002
NM_000192.3(TBX5):c.-153T>G rs1872328985 0.00001
NM_000192.3(TBX5):c.-503C>T rs893809666 0.00001
NM_181486.4(TBX5):c.*129A>G rs28730760 0.00001
NM_181486.4(TBX5):c.*147T>C rs886048996 0.00001
NM_181486.4(TBX5):c.*718G>A rs886048993 0.00001
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.456C>T (p.Leu152=) rs775748269 0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu) rs1479545982 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 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_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.922C>T (p.Pro308Ser) rs760334883 0.00001
GRCh37/hg19 12q24.21(chr12:114791609-114793234)
NC_000012.11:g.114795705_114844082dup
NM_000192.3(TBX5):c.-107T>C rs947021363
NM_000192.3(TBX5):c.-167G>A rs146645348
NM_000192.3(TBX5):c.-347C>G rs886049000
NM_000192.3(TBX5):c.-42G>A rs1287268402
NM_000192.3(TBX5):c.-487G>A rs1872352803
NM_000192.3(TBX5):c.-637G>A rs886049001
NM_000192.3:c.(362+1_363-1)_(*1602_?)del
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
NM_000192.3:c.(982+1_983-1)_(*1602_?)del
NM_000192.3:c.(?_-38)_(242+1_243-1)dup
NM_000192.3:c.(?_-667)_(*1602_?)del
NM_000192.3:c.(?_-667)_(755+1_756-1)dup
NM_000192.3:c.1033_1034dupGA
NM_000192.3:c.67_81delins
NM_000192.3:c.946C>T
NM_181486.4(TBX5):c.*1196T>C rs886048984
NM_181486.4(TBX5):c.*1385del rs35534655
NM_181486.4(TBX5):c.*1477_*1480del rs564562667
NM_181486.4(TBX5):c.*1548C>T rs1868723623
NM_181486.4(TBX5):c.*439T>A rs1868799935
NM_181486.4(TBX5):c.*545C>G rs886048994
NM_181486.4(TBX5):c.*717C>T rs148346089
NM_181486.4(TBX5):c.*755_*759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG rs886048992
NM_181486.4(TBX5):c.*806C>G rs886048990
NM_181486.4(TBX5):c.*836A>C rs537303672
NM_181486.4(TBX5):c.*852C>T rs886048989
NM_181486.4(TBX5):c.*856T>A rs886048988
NM_181486.4(TBX5):c.*926T>C rs886048986
NM_181486.4(TBX5):c.*97G>A rs883079
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter) rs1565923887
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.105dup (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.1074del (p.Pro359fs)
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter) rs765204502
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1158dup (p.Ser387fs) rs1064795870
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter) rs903933027
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter) rs377649723
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter) rs756049331
NM_181486.4(TBX5):c.1303del (p.Leu435fs)
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
NM_181486.4(TBX5):c.1346del (p.Gln449fs)
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile) rs971831243
NM_181486.4(TBX5):c.13G>A (p.Asp5Asn) rs886048999
NM_181486.4(TBX5):c.148-2A>G rs1565942511
NM_181486.4(TBX5):c.148-3C>A
NM_181486.4(TBX5):c.161T>C (p.Ile54Thr) rs104894384
NM_181486.4(TBX5):c.166del (p.Val56fs) rs2136421561
NM_181486.4(TBX5):c.174C>T (p.Leu58=) rs886048998
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) rs1555226581
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter) rs104894377
NM_181486.4(TBX5):c.238G>A (p.Gly80Arg) rs104894381
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.242+5G>A rs1555226575
NM_181486.4(TBX5):c.242G>T (p.Arg81Met)
NM_181486.4(TBX5):c.246_249del (p.Met83fs) rs1565941587
NM_181486.4(TBX5):c.253C>T (p.Pro85Ser) rs1565941579
NM_181486.4(TBX5):c.254C>T (p.Pro85Leu) rs1565941576
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter) rs767197919
NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)
NM_181486.4(TBX5):c.262A>T (p.Lys88Ter) rs2136418232
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter) rs1565941529
NM_181486.4(TBX5):c.336del (p.His112fs)
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter) rs1871662633
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter) rs1565941422
NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)
NM_181486.4(TBX5):c.362+1G>A rs1871659583
NM_181486.4(TBX5):c.362G>T (p.Trp121Leu)
NM_181486.4(TBX5):c.372G>C (p.Thr124=) rs778117002
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter) rs104894379
NM_181486.4(TBX5):c.416del (p.Pro139fs) rs1593880204
NM_181486.4(TBX5):c.426del (p.Ala143fs)
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter) rs1555226315
NM_181486.4(TBX5):c.454C>G (p.Leu152Val) rs2136416738
NM_181486.4(TBX5):c.457dup (p.Val153fs)
NM_181486.4(TBX5):c.496del (p.Asp166fs)
NM_181486.4(TBX5):c.500del (p.Pro167fs)
NM_181486.4(TBX5):c.510+1G>T rs1565940841
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.510+5G>C rs1555226301
NM_181486.4(TBX5):c.520A>G (p.Asn174Asp) rs1565939347
NM_181486.4(TBX5):c.529del (p.His177fs)
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter) rs1565939337
NM_181486.4(TBX5):c.538del (p.Gln180fs) rs1593876058
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.559_572dup (p.Asn191fs) rs1565939303
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.585C>T (p.Gly195=) rs753457483
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.634A>G (p.Ile212Val)
NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
NM_181486.4(TBX5):c.663+4A>T
NM_181486.4(TBX5):c.664-11C>T rs771400478
NM_181486.4(TBX5):c.664-2A>G rs1565935458
NM_181486.4(TBX5):c.664-342G>T
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.672del (p.Gln224fs)
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter) rs1565935432
NM_181486.4(TBX5):c.677A>G (p.Lys226Arg) rs1565935426
NM_181486.4(TBX5):c.680_683del (p.Ile227fs) rs1565935410
NM_181486.4(TBX5):c.694T>C (p.Phe232Leu)
NM_181486.4(TBX5):c.694T>G (p.Phe232Val) rs1565935405
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter) rs1565935397
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu) rs1870765797
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.713dup (p.Ser239fs)
NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
NM_181486.4(TBX5):c.73_74insT (p.Asp25fs) rs1565943328
NM_181486.4(TBX5):c.755+2T>C rs1565935314
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr) rs863223776
NM_181486.4(TBX5):c.756-2A>G rs1869545659
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe) rs1565927794
NM_181486.4(TBX5):c.846C>T (p.Ser282=) rs886048997
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter) rs1565927740
NM_181486.4(TBX5):c.905del (p.Gln302fs) rs1869529188
NM_181486.4(TBX5):c.924del (p.Asn309fs)
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter) rs1565927664
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter) rs1565927645
NM_181486.4(TBX5):c.978del (p.Glu328fs)

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