ClinVar Miner

List of variants in gene TBX1 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_001379200.1(TBX1):c.324G>A (p.Ala108=) rs72646953 0.02309
NM_001379200.1(TBX1):c.102G>T (p.Gly34=) rs72646952 0.01097
NM_001379200.1(TBX1):c.471C>T (p.Phe157=) rs139776757 0.00318
NM_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001379200.1(TBX1):c.954C>T (p.Pro318=) rs201607803 0.00114
NM_080647.1(TBX1):c.-3G>A rs41298786 0.00109
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser) rs565927787 0.00107
NM_001379200.1(TBX1):c.90G>T (p.Leu30=) rs770754649 0.00081
NM_001379200.1(TBX1):c.840C>T (p.Thr280=) rs61730282 0.00063
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala) rs952890575 0.00059
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=) rs200135498 0.00020
NM_001379200.1(TBX1):c.913C>A (p.Arg305=) rs751339103 0.00015
NM_001379200.1(TBX1):c.594G>A (p.Thr198=) rs138724943 0.00013
NM_001379200.1(TBX1):c.96C>T (p.Ala32=) rs931429492 0.00011
NM_001379200.1(TBX1):c.915G>C (p.Arg305=) rs146109202 0.00010
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001379200.1(TBX1):c.711C>T (p.His237=) rs200021644 0.00009
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln) rs776268518 0.00008
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val) rs753613632 0.00008
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro) rs755937050 0.00006
NM_001379200.1(TBX1):c.198C>T (p.Ala66=) rs1398031445 0.00006
NM_001379200.1(TBX1):c.657C>T (p.Ile219=) rs141186024 0.00006
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln) rs747623105 0.00005
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln) rs548714133 0.00004
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=) rs941116789 0.00004
NM_001379200.1(TBX1):c.489C>T (p.Ala163=) rs41298816 0.00004
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln) rs549715785 0.00003
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp) rs756543718 0.00003
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_001379200.1(TBX1):c.1440A>C (p.Ala480=) rs777313046 0.00003
NM_001379200.1(TBX1):c.351C>T (p.Ala117=) rs757290764 0.00003
NM_001379200.1(TBX1):c.617C>T (p.Pro206Leu) rs766608075 0.00003
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=) rs1381402015 0.00002
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly) rs745858331 0.00002
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp) rs1177085596 0.00002
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His) rs746250147 0.00002
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg) rs756769832 0.00002
NM_001379200.1(TBX1):c.393G>A (p.Glu131=) rs892270450 0.00002
NM_001379200.1(TBX1):c.582C>T (p.Ala194=) rs775502763 0.00002
NM_001379200.1(TBX1):c.618G>A (p.Pro206=) rs1177792242 0.00002
NM_001379200.1(TBX1):c.753C>T (p.His251=) rs201412495 0.00002
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp) rs1191464098 0.00001
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr) rs1407996016 0.00001
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu) rs1157536437 0.00001
NM_001379200.1(TBX1):c.1221C>T (p.Pro407=) rs1305509653 0.00001
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser) rs757648761 0.00001
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=) rs755047093 0.00001
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn) rs758517884 0.00001
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) rs574947516 0.00001
NM_001379200.1(TBX1):c.1323G>A (p.Arg441=) rs1228904807 0.00001
NM_001379200.1(TBX1):c.1329G>A (p.Ala443=) rs772860144 0.00001
NM_001379200.1(TBX1):c.1347C>T (p.Gly449=) rs1358757635 0.00001
NM_001379200.1(TBX1):c.1392C>T (p.His464=) rs777103863 0.00001
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=) rs754705790 0.00001
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu) rs1936641756 0.00001
NM_001379200.1(TBX1):c.279C>T (p.Ala93=) rs1191392752 0.00001
NM_001379200.1(TBX1):c.525C>T (p.Asp175=) rs538317719 0.00001
NM_001379200.1(TBX1):c.636C>T (p.Gly212=) rs779173153 0.00001
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr) rs748232668 0.00001
NM_001379200.1(TBX1):c.699C>T (p.Asp233=) rs367657296 0.00001
NM_001379200.1(TBX1):c.69G>C (p.Thr23=) rs1482857023 0.00001
NM_001379200.1(TBX1):c.780T>C (p.Asp260=) rs1936784892 0.00001
NM_001379200.1(TBX1):c.822C>T (p.Phe274=) rs763559631 0.00001
NM_001379200.1(TBX1):c.831A>T (p.Thr277=) rs1182771166 0.00001
NM_001379200.1(TBX1):c.1003G>A (p.Ala335Thr)
NM_001379200.1(TBX1):c.100G>A (p.Gly34Arg)
NM_001379200.1(TBX1):c.101G>A (p.Gly34Glu)
NM_001379200.1(TBX1):c.1020C>G (p.Pro340=)
NM_001379200.1(TBX1):c.102G>A (p.Gly34=)
NM_001379200.1(TBX1):c.1042G>A (p.Ala348Thr)
NM_001379200.1(TBX1):c.105C>G (p.Gly35=) rs1555895391
NM_001379200.1(TBX1):c.1065G>C (p.Gln355His)
NM_001379200.1(TBX1):c.1068C>T (p.Arg356=)
NM_001379200.1(TBX1):c.1074G>C (p.Ala358=)
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.1083A>T (p.Pro361=)
NM_001379200.1(TBX1):c.108C>T (p.Phe36=) rs1378203817
NM_001379200.1(TBX1):c.1092C>T (p.Leu364=)
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=) rs1010293843
NM_001379200.1(TBX1):c.110C>T (p.Pro37Leu)
NM_001379200.1(TBX1):c.1112C>G (p.Pro371Arg)
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
NM_001379200.1(TBX1):c.1122G>T (p.Leu374=)
NM_001379200.1(TBX1):c.1128G>C (p.Arg376=)
NM_001379200.1(TBX1):c.1137C>T (p.Ser379=)
NM_001379200.1(TBX1):c.1146G>A (p.Leu382=)
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His) rs953761540
NM_001379200.1(TBX1):c.1149C>T (p.Pro383=)
NM_001379200.1(TBX1):c.114C>T (p.Gly38=)
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly) rs1555896709
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3]) rs1288296547
NM_001379200.1(TBX1):c.115G>T (p.Ala39Ser)
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser) rs1936852709
NM_001379200.1(TBX1):c.1185C>T (p.Pro395=)
NM_001379200.1(TBX1):c.1191G>T (p.Ala397=)
NM_001379200.1(TBX1):c.1194C>T (p.Pro398=)
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln) rs1270901790
NM_001379200.1(TBX1):c.1210C>A (p.Pro404Thr)
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
NM_001379200.1(TBX1):c.121T>C (p.Ser41Pro)
NM_001379200.1(TBX1):c.121T>G (p.Ser41Ala)
NM_001379200.1(TBX1):c.1222G>C (p.Glu408Gln)
NM_001379200.1(TBX1):c.1228C>A (p.Arg410Ser)
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=) rs1228513970
NM_001379200.1(TBX1):c.1245C>G (p.Gly415=)
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
NM_001379200.1(TBX1):c.1257G>C (p.Pro419=)
NM_001379200.1(TBX1):c.1269C>T (p.His423=) rs761327170
NM_001379200.1(TBX1):c.126C>G (p.Pro42=)
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His) rs1243986502
NM_001379200.1(TBX1):c.1289C>T (p.Ala430Val)
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
NM_001379200.1(TBX1):c.1302C>T (p.His434=)
NM_001379200.1(TBX1):c.1305T>C (p.Tyr435=)
NM_001379200.1(TBX1):c.1308C>T (p.Leu436=)
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg) rs2145838985
NM_001379200.1(TBX1):c.132C>G (p.Ala44=)
NM_001379200.1(TBX1):c.1335C>T (p.Tyr445=)
NM_001379200.1(TBX1):c.1341G>C (p.Leu447=)
NM_001379200.1(TBX1):c.1343C>A (p.Pro448His)
NM_001379200.1(TBX1):c.134A>C (p.Asp45Ala)
NM_001379200.1(TBX1):c.1350G>C (p.Leu450=)
NM_001379200.1(TBX1):c.1352G>T (p.Arg451Leu)
NM_001379200.1(TBX1):c.1360G>C (p.Gly454Arg)
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup) rs774578030
NM_001379200.1(TBX1):c.1380T>C (p.His460=) rs367711718
NM_001379200.1(TBX1):c.138G>A (p.Pro46=)
NM_001379200.1(TBX1):c.1395C>T (p.His465=)
NM_001379200.1(TBX1):c.1421C>G (p.Ala474Gly)
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del) rs746335599
NM_001379200.1(TBX1):c.1429G>C (p.Ala477Pro)
NM_001379200.1(TBX1):c.1430C>G (p.Ala477Gly)
NM_001379200.1(TBX1):c.1431C>A (p.Ala477=)
NM_001379200.1(TBX1):c.1432G>C (p.Ala478Pro)
NM_001379200.1(TBX1):c.1434T>A (p.Ala478=)
NM_001379200.1(TBX1):c.1434T>C (p.Ala478=)
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
NM_001379200.1(TBX1):c.1452C>T (p.Ala484=)
NM_001379200.1(TBX1):c.1456A>G (p.Asn486Asp)
NM_001379200.1(TBX1):c.145C>G (p.Pro49Ala)
NM_001379200.1(TBX1):c.1488C>T (p.Pro496=)
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
NM_001379200.1(TBX1):c.1511G>A (p.Arg504Lys)
NM_001379200.1(TBX1):c.152A>C (p.Glu51Ala)
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup) rs886038791
NM_001379200.1(TBX1):c.170C>G (p.Pro57Arg)
NM_001379200.1(TBX1):c.171G>A (p.Pro57=)
NM_001379200.1(TBX1):c.183G>T (p.Pro61=) rs1422322991
NM_001379200.1(TBX1):c.189C>G (p.Ala63=)
NM_001379200.1(TBX1):c.190G>C (p.Ala64Pro)
NM_001379200.1(TBX1):c.195C>G (p.Ala65=)
NM_001379200.1(TBX1):c.196G>T (p.Ala66Ser)
NM_001379200.1(TBX1):c.200C>A (p.Pro67His)
NM_001379200.1(TBX1):c.202G>A (p.Gly68Ser)
NM_001379200.1(TBX1):c.207C>T (p.Ala69=)
NM_001379200.1(TBX1):c.208C>T (p.Pro70Ser)
NM_001379200.1(TBX1):c.209C>T (p.Pro70Leu)
NM_001379200.1(TBX1):c.215C>T (p.Pro72Leu)
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.218C>G (p.Pro73Arg)
NM_001379200.1(TBX1):c.221C>G (p.Pro74Arg)
NM_001379200.1(TBX1):c.226C>G (p.Pro76Ala)
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr) rs1028072654
NM_001379200.1(TBX1):c.233C>G (p.Ala78Gly)
NM_001379200.1(TBX1):c.233C>T (p.Ala78Val)
NM_001379200.1(TBX1):c.234C>G (p.Ala78=)
NM_001379200.1(TBX1):c.240G>T (p.Pro80=)
NM_001379200.1(TBX1):c.243T>C (p.Phe81=)
NM_001379200.1(TBX1):c.246G>A (p.Ala82=)
NM_001379200.1(TBX1):c.255C>T (p.Ala85=)
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
NM_001379200.1(TBX1):c.270C>T (p.Ser90=)
NM_001379200.1(TBX1):c.273C>T (p.Ala91=) rs1936644941
NM_001379200.1(TBX1):c.294C>T (p.Pro98=)
NM_001379200.1(TBX1):c.300C>T (p.Ala100=)
NM_001379200.1(TBX1):c.301A>G (p.Ser101Gly)
NM_001379200.1(TBX1):c.311C>T (p.Ala104Val)
NM_001379200.1(TBX1):c.315A>C (p.Ala105=)
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
NM_001379200.1(TBX1):c.324G>T (p.Ala108=)
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
NM_001379200.1(TBX1):c.352G>A (p.Gly118Ser)
NM_001379200.1(TBX1):c.354T>C (p.Gly118=)
NM_001379200.1(TBX1):c.361G>A (p.Val121Met)
NM_001379200.1(TBX1):c.369A>G (p.Leu123=) rs541899328
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
NM_001379200.1(TBX1):c.396C>T (p.Phe132=)
NM_001379200.1(TBX1):c.409A>G (p.Thr137Ala)
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
NM_001379200.1(TBX1):c.532C>T (p.Arg178Cys)
NM_001379200.1(TBX1):c.555C>T (p.Ser185=) rs1337949186
NM_001379200.1(TBX1):c.567G>C (p.Leu189=)
NM_001379200.1(TBX1):c.598G>A (p.Gly200Ser)
NM_001379200.1(TBX1):c.603C>T (p.Arg201=) rs761495882
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
NM_001379200.1(TBX1):c.606G>A (p.Val202=)
NM_001379200.1(TBX1):c.609C>T (p.His203=)
NM_001379200.1(TBX1):c.633G>A (p.Lys211=)
NM_001379200.1(TBX1):c.639G>C (p.Ala213=)
NM_001379200.1(TBX1):c.639G>T (p.Ala213=) rs778071107
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr) rs965143242
NM_001379200.1(TBX1):c.76A>G (p.Ser26Gly)
NM_001379200.1(TBX1):c.783C>T (p.Ser261=)
NM_001379200.1(TBX1):c.78C>G (p.Ser26Arg)
NM_001379200.1(TBX1):c.795C>T (p.Ala265=)
NM_001379200.1(TBX1):c.798G>A (p.Glu266=)
NM_001379200.1(TBX1):c.814T>A (p.Phe272Ile)
NM_001379200.1(TBX1):c.822C>A (p.Phe274Leu)
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
NM_001379200.1(TBX1):c.82A>C (p.Ser28Arg)
NM_001379200.1(TBX1):c.83G>T (p.Ser28Ile)
NM_001379200.1(TBX1):c.85A>G (p.Ser29Gly)
NM_001379200.1(TBX1):c.87C>G (p.Ser29Arg)
NM_001379200.1(TBX1):c.903G>A (p.Ala301=)
NM_001379200.1(TBX1):c.93G>T (p.Gly31=)
NM_001379200.1(TBX1):c.942G>C (p.Arg314=)
NM_001379200.1(TBX1):c.946C>T (p.His316Tyr)
NM_001379200.1(TBX1):c.949C>A (p.Arg317=)
NM_001379200.1(TBX1):c.961C>G (p.Leu321Val)
NM_001379200.1(TBX1):c.96C>G (p.Ala32=)
NM_001379200.1(TBX1):c.98C>T (p.Ala33Val)
NM_080647.1(TBX1):c.14C>T (p.Thr5Ile)
NM_080647.1(TBX1):c.15C>T (p.Thr5=) rs764497467
NM_080647.1(TBX1):c.18C>G (p.Val6=)
NM_080647.1(TBX1):c.26A>T (p.Asp9Val)

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