ClinVar Miner

List of variants in gene TBX5 studied for familial bicuspid aortic valve

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_181486.4(TBX5):c.148-19T>A rs80026530 0.01865
NM_181486.4(TBX5):c.1281C>T (p.Ser427=) rs6489957 0.01766
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
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.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.747A>G (p.Arg249=) rs138552878 0.00051
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.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_181486.4(TBX5):c.865T>G (p.Ser289Ala) rs543015692 0.00030
NM_181486.4(TBX5):c.948G>A (p.Glu316=) rs767086503 0.00028
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser) rs368311885 0.00025
NM_181486.4(TBX5):c.147+13C>A rs201290379 0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=) rs141457646 0.00024
NM_181486.4(TBX5):c.600G>T (p.Ala200=) rs139329918 0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_181486.4(TBX5):c.510+13G>T rs192482520 0.00018
NM_181486.4(TBX5):c.1381G>A (p.Val461Met) rs201152128 0.00015
NM_181486.4(TBX5):c.834T>C (p.Ser278=) rs142609815 0.00014
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 0.00011
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.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_181486.4(TBX5):c.1545C>T (p.Ser515=) rs186780790 0.00007
NM_181486.4(TBX5):c.1293C>G (p.Thr431=) rs143971376 0.00006
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.204C>T (p.His68=) rs375854421 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_181486.4(TBX5):c.1273C>A (p.His425Asn) rs755152246 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00004
NM_181486.4(TBX5):c.1425C>G (p.Gly475=) rs199729532 0.00004
NM_181486.4(TBX5):c.1443C>T (p.Thr481=) rs137928706 0.00004
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_181486.4(TBX5):c.15C>T (p.Asp5=) rs767487291 0.00004
NM_181486.4(TBX5):c.576T>C (p.Asn192=) rs201212120 0.00004
NM_181486.4(TBX5):c.639A>G (p.Ala213=) rs149274578 0.00004
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys) rs201071418 0.00004
NM_181486.4(TBX5):c.1113G>A (p.Glu371=) rs757158327 0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp) rs377532269 0.00003
NM_181486.4(TBX5):c.1242C>T (p.Thr414=) rs370133092 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.242+9G>T rs186666277 0.00003
NM_181486.4(TBX5):c.276G>C (p.Thr92=) rs773971213 0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) rs772844823 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.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_181486.4(TBX5):c.1493C>A (p.Ser498Tyr) rs1474068722 0.00002
NM_181486.4(TBX5):c.465C>T (p.Phe155=) rs778977800 0.00002
NM_181486.4(TBX5):c.612C>T (p.His204=) rs200326827 0.00002
NM_181486.4(TBX5):c.669G>A (p.Thr223=) rs376519728 0.00002
NM_181486.4(TBX5):c.965A>G (p.His322Arg) rs759009256 0.00002
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu) rs765204502 0.00001
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met) rs759766836 0.00001
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn) rs773568096 0.00001
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu) rs759976245 0.00001
NM_181486.4(TBX5):c.1289T>C (p.Phe430Ser) rs1396124456 0.00001
NM_181486.4(TBX5):c.1302C>T (p.Pro434=) rs1231034401 0.00001
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln) rs557758851 0.00001
NM_181486.4(TBX5):c.1322G>A (p.Gly441Asp) rs1203543672 0.00001
NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu) rs772790458 0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val) rs1243477560 0.00001
NM_181486.4(TBX5):c.1380C>T (p.Ser460=) rs575162861 0.00001
NM_181486.4(TBX5):c.1413G>A (p.Gly471=) rs764756835 0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=) rs117965596 0.00001
NM_181486.4(TBX5):c.322C>T (p.Pro108Ser) rs376621016 0.00001
NM_181486.4(TBX5):c.327C>T (p.Ala109=) rs749667596 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.579A>G (p.Gly193=) rs967802452 0.00001
NM_181486.4(TBX5):c.664-14C>T rs751285432 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.732G>T (p.Leu244=) rs769541948 0.00001
NM_181486.4(TBX5):c.768C>T (p.Pro256=) rs370805715 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.950A>G (p.His317Arg) rs1869524074 0.00001
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114793327)_(114793921_?)del
NC_000012.11:g.(?_114793337)_(114793931_?)dup
NC_000012.11:g.(?_114793337)_(114837457_?)del
NC_000012.11:g.(?_114803950)_(114804216_?)dup
NC_000012.11:g.(?_114803950)_(114823392_?)dup
NC_000012.11:g.(?_114823261)_(114823392_?)del
NC_000012.11:g.(?_114823261)_(114841703_?)dup
NC_000012.11:g.(?_114837390)_(114846189_?)del
NC_000012.12:g.(?_114394721)_(114394913_?)del
NC_000012.12:g.(?_114401806)_(114401940_?)del
NC_000012.12:g.(?_114401816)_(114401930_?)del
NM_181486.4(TBX5):c.100dup (p.Ala34fs)
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
NM_181486.4(TBX5):c.1012del (p.Tyr338fs) rs2136360335
NM_181486.4(TBX5):c.101C>T (p.Ala34Val) rs761952835
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter) rs2136360259
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr) rs1319312312
NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter) rs1593836748
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
NM_181486.4(TBX5):c.1157C>A (p.Pro386His) rs771857554
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser) rs1187747905
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
NM_181486.4(TBX5):c.116del (p.Pro39fs)
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
NM_181486.4(TBX5):c.1206A>G (p.Pro402=) rs763129045
NM_181486.4(TBX5):c.1233C>T (p.Thr411=) rs188839350
NM_181486.4(TBX5):c.1242C>A (p.Thr414=) rs370133092
NM_181486.4(TBX5):c.1243G>A (p.Val415Met)
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
NM_181486.4(TBX5):c.1332C>T (p.Asn444=)
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter) rs863223777
NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)
NM_181486.4(TBX5):c.1451C>A (p.Pro484His) rs768644203
NM_181486.4(TBX5):c.147+13C>G
NM_181486.4(TBX5):c.147+8_147+10del rs1593886226
NM_181486.4(TBX5):c.148-2A>C
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.1488T>C (p.Thr496=)
NM_181486.4(TBX5):c.1518C>T (p.His506=)
NM_181486.4(TBX5):c.1524T>C (p.Val508=)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter) rs1208004863
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
NM_181486.4(TBX5):c.163_172del (p.Lys55fs) rs1593883930
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
NM_181486.4(TBX5):c.216G>A (p.Thr72=)
NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer) rs1871830996
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) rs1871830806
NM_181486.4(TBX5):c.242+15T>C
NM_181486.4(TBX5):c.242+18G>A
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
NM_181486.4(TBX5):c.243-13C>T
NM_181486.4(TBX5):c.243-1G>A rs1871673582
NM_181486.4(TBX5):c.243-20_243-5del rs2136418321
NM_181486.4(TBX5):c.243-2A>G rs2136418310
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
NM_181486.4(TBX5):c.246del (p.Met83fs) rs1871673161
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu) rs2136418265
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys) rs886039131
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
NM_181486.4(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu) rs2136418134
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter) rs2136418056
NM_181486.4(TBX5):c.362+13G>T
NM_181486.4(TBX5):c.362+2T>C rs1593881162
NM_181486.4(TBX5):c.363-2A>G rs1565941072
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
NM_181486.4(TBX5):c.383_386dup (p.Met131fs) rs2136416963
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.390del (p.Met131fs) rs1565941046
NM_181486.4(TBX5):c.400del (p.Arg134fs) rs1408227928
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr) rs1871581681
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.432dup (p.Gly145fs) rs1555226322
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
NM_181486.4(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_181486.4(TBX5):c.456del (p.Val153fs) rs1057520136
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
NM_181486.4(TBX5):c.476A>C (p.Lys159Thr) rs2136416640
NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)
NM_181486.4(TBX5):c.481A>T (p.Thr161Ser) rs2136416621
NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp) rs1871568678
NM_181486.4(TBX5):c.486C>A (p.Asn162Lys) rs2136416601
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.510+8C>A
NM_181486.4(TBX5):c.511-1G>C rs2136411098
NM_181486.4(TBX5):c.511-1del
NM_181486.4(TBX5):c.511-9del rs775035000
NM_181486.4(TBX5):c.529C>T (p.His177Tyr)
NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
NM_181486.4(TBX5):c.555C>T (p.Ile185=) rs142631741
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.564G>T (p.Ala188=)
NM_181486.4(TBX5):c.57A>C (p.Ala19=) rs567785340
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.593del (p.Asn198fs) rs1565939215
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.594dup (p.Thr199fs)
NM_181486.4(TBX5):c.595dup (p.Thr199fs) rs1555226005
NM_181486.4(TBX5):c.611dup (p.His204fs) rs863223786
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.613G>T (p.Val205Phe) rs190881877
NM_181486.4(TBX5):c.627T>C (p.Thr209=)
NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
NM_181486.4(TBX5):c.629_632dup (p.Ile212fs) rs1555225989
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter) rs2136410724
NM_181486.4(TBX5):c.658_660del (p.His220del) rs1871328960
NM_181486.4(TBX5):c.663+16A>G rs752606041
NM_181486.4(TBX5):c.663+1G>A rs1871328488
NM_181486.4(TBX5):c.663+6C>G
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser) rs2136397905
NM_181486.4(TBX5):c.698C>T (p.Ala233Val) rs1870766147
NM_181486.4(TBX5):c.69del (p.Cys24fs) rs1872004016
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.717T>C (p.Ser239=)
NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
NM_181486.4(TBX5):c.727del (p.Glu243fs) rs1870762150
NM_181486.4(TBX5):c.730C>T (p.Leu244=)
NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
NM_181486.4(TBX5):c.736A>C (p.Arg246=)
NM_181486.4(TBX5):c.736A>G (p.Arg246Gly)
NM_181486.4(TBX5):c.755+11G>A
NM_181486.4(TBX5):c.755+17del rs1412151452
NM_181486.4(TBX5):c.755+1G>A
NM_181486.4(TBX5):c.755+1G>T rs2136397746
NM_181486.4(TBX5):c.755+4G>A
NM_181486.4(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_181486.4(TBX5):c.756-2A>G rs1869545659
NM_181486.4(TBX5):c.760G>T (p.Glu254Ter) rs2136373802
NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter) rs2136373795
NM_181486.4(TBX5):c.813_814del (p.His271fs) rs1869539814
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.841C>G (p.Leu281Val) rs760177359
NM_181486.4(TBX5):c.842T>G (p.Leu281Arg)
NM_181486.4(TBX5):c.853_865del (p.Ser285fs)
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
NM_181486.4(TBX5):c.864G>A (p.Gly288=)
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_181486.4(TBX5):c.884del (p.Asn295fs)
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
NM_181486.4(TBX5):c.920del (p.Pro307fs)
NM_181486.4(TBX5):c.926_927del (p.Asn309fs) rs1593847163
NM_181486.4(TBX5):c.927C>A (p.Asn309Lys)
NM_181486.4(TBX5):c.937C>G (p.Leu313Val)
NM_181486.4(TBX5):c.944A>G (p.Gln315Arg)
NM_181486.4(TBX5):c.958del (p.Ile320fs) rs878853750
NM_181486.4(TBX5):c.982+11T>G
NM_181486.4(TBX5):c.982+14C>T
NM_181486.4(TBX5):c.982+1G>A rs2136373207
NM_181486.4(TBX5):c.982+20G>A rs1231635306
NM_181486.4(TBX5):c.982+2T>G rs2136373205
NM_181486.4(TBX5):c.983-13C>T
NM_181486.4(TBX5):c.983-8C>T

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