ClinVar Miner

List of variants reported as uncertain significance for T-cell immunodeficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 353
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser) rs201993443 0.00026
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001379200.1(TBX1):c.284C>T (p.Pro95Leu) rs775295536 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.95C>T (p.Ala32Val) rs1415687525 0.00007
NM_001379200.1(TBX1):c.711+3G>A rs376779775 0.00006
NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu) rs1001921296 0.00005
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.1085C>G (p.Ala362Gly) rs569581176 0.00004
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln) rs548714133 0.00004
NM_001379200.1(TBX1):c.113G>A (p.Gly38Asp) rs908778553 0.00004
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr) rs1342897153 0.00004
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu) rs1464455403 0.00003
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val) rs1383914204 0.00003
NM_001379200.1(TBX1):c.1186G>C (p.Gly396Arg) rs1377774172 0.00002
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg) rs767961877 0.00002
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp) rs1177085596 0.00002
NM_001379200.1(TBX1):c.1386C>A (p.His462Gln) rs1172793466 0.00002
NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val) rs757867291 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.286G>C (p.Glu96Gln) rs762629442 0.00002
NM_001379200.1(TBX1):c.351C>T (p.Ala117=) rs757290764 0.00002
NM_001379200.1(TBX1):c.472G>A (p.Gly158Ser) rs909599095 0.00002
NM_001379200.1(TBX1):c.922G>C (p.Asp308His) rs750330152 0.00002
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser) rs1359119941 0.00002
NM_001379200.1(TBX1):c.1003G>T (p.Ala335Ser) rs892172437 0.00001
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu) rs1300317275 0.00001
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.1195G>A (p.Gly399Arg) rs1196576937 0.00001
NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala) rs1274082696 0.00001
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala) rs1238160485 0.00001
NM_001379200.1(TBX1):c.119C>T (p.Ala40Val) rs745369694 0.00001
NM_001379200.1(TBX1):c.1286C>T (p.Ala429Val) rs754328637 0.00001
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys) rs1163307521 0.00001
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn) rs758517884 0.00001
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys) rs1386894564 0.00001
NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu) rs1169037254 0.00001
NM_001379200.1(TBX1):c.1469C>T (p.Ser490Leu) rs770129913 0.00001
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val) rs373987708 0.00001
NM_001379200.1(TBX1):c.1500C>G (p.Asp500Glu) rs777213879 0.00001
NM_001379200.1(TBX1):c.158C>T (p.Pro53Leu) rs1403071771 0.00001
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu) rs1936641756 0.00001
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr) rs1936643083 0.00001
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg) rs774556411 0.00001
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp) rs761127806 0.00001
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu) rs778041960 0.00001
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn) rs371125236 0.00001
NM_001379200.1(TBX1):c.632A>G (p.Lys211Arg) rs755518264 0.00001
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr) rs748232668 0.00001
NM_001379200.1(TBX1):c.658G>A (p.Val220Met) rs749275495 0.00001
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn) rs765827737 0.00001
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg) rs373539086 0.00001
NM_001379200.1(TBX1):c.956G>C (p.Gly319Ala) rs747565599 0.00001
NM_001379200.1(TBX1):c.986G>C (p.Arg329Pro) rs1271930172 0.00001
NM_080647.1(TBX1):c.34+6C>T rs1263773731 0.00001
GRCh37/hg19 5p15.1(chr5:15086014-15868591)x3
NC_000022.10:g.(?_18900668)_(19770565_?)dup
NC_000022.10:g.(?_18900688)_(21351637_?)dup
NC_000022.10:g.(?_18910310)_(19770565_?)dup
NC_000022.10:g.(?_19743226)_(19755855_?)dup
NC_000022.10:g.(?_19747167)_(19748823_?)dup
NC_000022.10:g.(?_19753261)_(19754390_?)del
NM_001379200.1(TBX1):c.1000G>A (p.Val334Met)
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala) rs1335862067
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys) rs1294861011
NM_001379200.1(TBX1):c.1026C>T (p.Gly342=)
NM_001379200.1(TBX1):c.1028C>A (p.Thr343Lys)
NM_001379200.1(TBX1):c.1030G>A (p.Glu344Lys)
NM_001379200.1(TBX1):c.1036+4G>T rs1936826165
NM_001379200.1(TBX1):c.1036+6G>A
NM_001379200.1(TBX1):c.1036G>A (p.Asp346Asn)
NM_001379200.1(TBX1):c.1037-11C>T
NM_001379200.1(TBX1):c.1037-1G>A rs1936844527
NM_001379200.1(TBX1):c.1037-7_1037-6del rs1037168604
NM_001379200.1(TBX1):c.1041G>A (p.Ala347=)
NM_001379200.1(TBX1):c.1045G>A (p.Glu349Lys)
NM_001379200.1(TBX1):c.1046A>T (p.Glu349Val) rs751917634
NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp)
NM_001379200.1(TBX1):c.104G>T (p.Gly35Val)
NM_001379200.1(TBX1):c.1051C>T (p.Arg351Trp)
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser) rs1046395605
NM_001379200.1(TBX1):c.1067G>A (p.Arg356His)
NM_001379200.1(TBX1):c.1070A>G (p.Asp357Gly)
NM_001379200.1(TBX1):c.1071C>A (p.Asp357Glu)
NM_001379200.1(TBX1):c.1072G>A (p.Ala358Thr)
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) rs1452987245
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.1076G>T (p.Gly359Val) rs781731042
NM_001379200.1(TBX1):c.1085C>T (p.Ala362Val) rs569581176
NM_001379200.1(TBX1):c.1089_1090delinsAA (p.Leu364Ile)
NM_001379200.1(TBX1):c.1090C>T (p.Leu364Phe) rs1200093941
NM_001379200.1(TBX1):c.1096G>A (p.Asp366Asn)
NM_001379200.1(TBX1):c.1099C>G (p.Pro367Ala) rs2145838185
NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr) rs2145827634
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr) rs1936848458
NM_001379200.1(TBX1):c.1112C>T (p.Pro371Leu)
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
NM_001379200.1(TBX1):c.1121T>C (p.Leu374Pro)
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly) rs2145838292
NM_001379200.1(TBX1):c.1138C>T (p.Pro380Ser) rs922499443
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu) rs1936850184
NM_001379200.1(TBX1):c.1145T>C (p.Leu382Pro) rs2145838313
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His) rs953761540
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) rs1192078635
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly) rs1555896709
NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1]) rs1288296547
NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr)
NM_001379200.1(TBX1):c.115_213del (p.Ala39_Gly71del)
NM_001379200.1(TBX1):c.1160G>A (p.Gly387Asp) rs2145838410
NM_001379200.1(TBX1):c.1165G>A (p.Gly389Ser)
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg) rs1408610906
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser) rs1936852709
NM_001379200.1(TBX1):c.1178C>G (p.Pro393Arg)
NM_001379200.1(TBX1):c.1180C>A (p.Leu394Met)
NM_001379200.1(TBX1):c.1189G>A (p.Ala397Thr) rs2145838479
NM_001379200.1(TBX1):c.1196G>A (p.Gly399Glu) rs1274082696
NM_001379200.1(TBX1):c.1196G>T (p.Gly399Val)
NM_001379200.1(TBX1):c.1198G>C (p.Gly400Arg) rs1936854182
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln) rs1270901790
NM_001379200.1(TBX1):c.1204C>T (p.Pro402Ser) rs1485590152
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg) rs1936854828
NM_001379200.1(TBX1):c.1208G>A (p.Ser403Asn) rs749558577
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
NM_001379200.1(TBX1):c.1214C>G (p.Pro405Arg)
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser) rs1936855908
NM_001379200.1(TBX1):c.1238C>T (p.Ala413Val)
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser) rs2145827697
NM_001379200.1(TBX1):c.1250C>T (p.Ser417Leu) rs779281442
NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp)
NM_001379200.1(TBX1):c.1256C>T (p.Pro419Leu)
NM_001379200.1(TBX1):c.1261C>A (p.His421Asn) rs985907694
NM_001379200.1(TBX1):c.1265A>G (p.His422Arg)
NM_001379200.1(TBX1):c.1266_1267delinsAT (p.His422_His423delinsGlnTyr)
NM_001379200.1(TBX1):c.1268A>C (p.His423Pro)
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His) rs1243986502
NM_001379200.1(TBX1):c.1276A>C (p.Lys426Gln)
NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser) rs1936637392
NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys) rs1936637392
NM_001379200.1(TBX1):c.1280A>T (p.Tyr427Phe) rs1601294456
NM_001379200.1(TBX1):c.1282C>T (p.Pro428Ser)
NM_001379200.1(TBX1):c.1283C>G (p.Pro428Arg)
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr) rs758517884
NM_001379200.1(TBX1):c.1299C>A (p.Asp433Glu)
NM_001379200.1(TBX1):c.1301A>C (p.His434Pro)
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
NM_001379200.1(TBX1):c.1302_1304del (p.Tyr435del) rs1936861633
NM_001379200.1(TBX1):c.1306C>T (p.Leu436Phe)
NM_001379200.1(TBX1):c.1309G>T (p.Gly437Trp)
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg) rs2145838985
NM_001379200.1(TBX1):c.1321C>T (p.Arg441Trp)
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser) rs777873225
NM_001379200.1(TBX1):c.1345G>C (p.Gly449Arg) rs777873225
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val) rs751740430
NM_001379200.1(TBX1):c.1361_1375del (p.Gly454_His458del)
NM_001379200.1(TBX1):c.1361_1384dup (p.Pro461_His462insArgTyrHisProHisAlaHisPro)
NM_001379200.1(TBX1):c.1363T>C (p.Tyr455His)
NM_001379200.1(TBX1):c.1368C>A (p.His456Gln) rs1601294758
NM_001379200.1(TBX1):c.1369C>T (p.Pro457Ser)
NM_001379200.1(TBX1):c.1370C>G (p.Pro457Arg)
NM_001379200.1(TBX1):c.1375_1386dup (p.His462_His463insAlaHisProHis)
NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)
NM_001379200.1(TBX1):c.1376C>T (p.Ala459Val) rs1936866904
NM_001379200.1(TBX1):c.1379A>T (p.His460Leu) rs1384737337
NM_001379200.1(TBX1):c.1380T>A (p.His460Gln)
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln) rs367711718
NM_001379200.1(TBX1):c.1381C>T (p.Pro461Ser)
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu) rs1936867566
NM_001379200.1(TBX1):c.1385ACC[3] (p.His465_His466del) rs753713234
NM_001379200.1(TBX1):c.1385ACC[6] (p.His466_Pro467insHis)
NM_001379200.1(TBX1):c.1385ACC[7] (p.His466_Pro467insHisHis)
NM_001379200.1(TBX1):c.1387C>A (p.His463Asn)
NM_001379200.1(TBX1):c.1388A>G (p.His463Arg)
NM_001379200.1(TBX1):c.1393C>G (p.His465Asp) rs2145839292
NM_001379200.1(TBX1):c.1394_1397dup (p.His466fs)
NM_001379200.1(TBX1):c.1399C>A (p.Pro467Thr) rs765827356
NM_001379200.1(TBX1):c.1399C>T (p.Pro467Ser)
NM_001379200.1(TBX1):c.1400C>T (p.Pro467Leu) rs1936869060
NM_001379200.1(TBX1):c.1408_1416del (p.Pro470_Ala472del)
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del) rs1238730283
NM_001379200.1(TBX1):c.1414_1415del (p.Ala472fs)
NM_001379200.1(TBX1):c.1417G>T (p.Ala473Ser)
NM_001379200.1(TBX1):c.1419_1421dup (p.Ala485_Asn486insAla)
NM_001379200.1(TBX1):c.1419_1424dup (p.Ala484_Ala485dup) rs1478207118
NM_001379200.1(TBX1):c.1419_1427dup (p.Ala485_Asn486insAlaAlaAla)
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del) rs780815537
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
NM_001379200.1(TBX1):c.1422CGC[5] (p.Ala485dup) rs756680878
NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)
NM_001379200.1(TBX1):c.1423G>A (p.Ala475Thr)
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del) rs746335599
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs746335599
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup) rs1569024504
NM_001379200.1(TBX1):c.143G>T (p.Gly48Val)
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup) rs748434309
NM_001379200.1(TBX1):c.1440_1454dup (p.Ala485_Asn486insAlaAlaAlaAlaAla)
NM_001379200.1(TBX1):c.1443_1451dup (p.Ala483_Ala485dup) rs760701410
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
NM_001379200.1(TBX1):c.1451C>T (p.Ala484Val) rs1407079342
NM_001379200.1(TBX1):c.1459A>G (p.Met487Val)
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu) rs1936874664
NM_001379200.1(TBX1):c.1461G>A (p.Met487Ile) rs371506174
NM_001379200.1(TBX1):c.1465T>C (p.Ser489Pro)
NM_001379200.1(TBX1):c.1465TCG[1] (p.Ser490del)
NM_001379200.1(TBX1):c.1466C>T (p.Ser489Leu) rs2145839683
NM_001379200.1(TBX1):c.1468T>C (p.Ser490Pro)
NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter) rs541198585
NM_001379200.1(TBX1):c.1483_1488del (p.Pro495_Pro496del)
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln) rs762076391
NM_001379200.1(TBX1):c.1495T>G (p.Tyr499Asp)
NM_001379200.1(TBX1):c.1501T>A (p.Tyr501Asn)
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
NM_001379200.1(TBX1):c.1508C>T (p.Pro503Leu)
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del) rs1601282938
NM_001379200.1(TBX1):c.154C>A (p.Pro52Thr)
NM_001379200.1(TBX1):c.157C>T (p.Pro53Ser) rs1936638931
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del) rs886038791
NM_001379200.1(TBX1):c.166C>T (p.Pro56Ser)
NM_001379200.1(TBX1):c.167_229del (p.Pro56_Pro76del) rs2145827836
NM_001379200.1(TBX1):c.170C>T (p.Pro57Leu)
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del) rs1569018211
NM_001379200.1(TBX1):c.182C>T (p.Pro61Leu) rs1936640287
NM_001379200.1(TBX1):c.185G>A (p.Cys62Tyr)
NM_001379200.1(TBX1):c.187GCC[3] (p.Ala66del)
NM_001379200.1(TBX1):c.187GCC[5] (p.Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.187GCC[7] (p.Ala64_Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.194_202del (p.Ala65_Pro67del) rs1601283061
NM_001379200.1(TBX1):c.203G>A (p.Gly68Asp)
NM_001379200.1(TBX1):c.212G>A (p.Gly71Asp)
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu) rs1936642852
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser) rs1936642931
NM_001379200.1(TBX1):c.221C>T (p.Pro74Leu)
NM_001379200.1(TBX1):c.224C>T (p.Pro75Leu)
NM_001379200.1(TBX1):c.227C>T (p.Pro76Leu)
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
NM_001379200.1(TBX1):c.230A>T (p.His77Leu)
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr) rs1028072654
NM_001379200.1(TBX1):c.239C>A (p.Pro80Gln)
NM_001379200.1(TBX1):c.239C>G (p.Pro80Arg) rs984681986
NM_001379200.1(TBX1):c.245C>A (p.Ala82Glu)
NM_001379200.1(TBX1):c.247C>T (p.Pro83Ser)
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr) rs769629385
NM_001379200.1(TBX1):c.259G>T (p.Ala87Ser)
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
NM_001379200.1(TBX1):c.265_276del (p.Thr89_Ala92del)
NM_001379200.1(TBX1):c.277_278delinsAA (p.Ala93Asn)
NM_001379200.1(TBX1):c.284C>G (p.Pro95Arg) rs775295536
NM_001379200.1(TBX1):c.290G>A (p.Gly97Asp)
NM_001379200.1(TBX1):c.302G>C (p.Ser101Thr)
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr) rs1936647003
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
NM_001379200.1(TBX1):c.326C>T (p.Pro109Leu) rs754087937
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu) rs1221938042
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
NM_001379200.1(TBX1):c.341C>T (p.Ala114Val)
NM_001379200.1(TBX1):c.353G>A (p.Gly118Asp)
NM_001379200.1(TBX1):c.366G>C (p.Gln122His)
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
NM_001379200.1(TBX1):c.373A>T (p.Met125Leu)
NM_001379200.1(TBX1):c.380C>T (p.Ala127Val) rs1601283489
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu) rs772419022
NM_001379200.1(TBX1):c.402G>C (p.Gln134His)
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001379200.1(TBX1):c.421G>C (p.Val141Leu)
NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg)
NM_001379200.1(TBX1):c.42G>T (p.Ser14=)
NM_001379200.1(TBX1):c.433G>A (p.Gly145Ser)
NM_001379200.1(TBX1):c.437+3C>G rs759797253
NM_001379200.1(TBX1):c.437+3C>T rs759797253
NM_001379200.1(TBX1):c.438-14C>G
NM_001379200.1(TBX1):c.438-5C>A rs972035685
NM_001379200.1(TBX1):c.438G>A (p.Arg146=) rs2145832204
NM_001379200.1(TBX1):c.439C>T (p.Arg147Trp) rs1936724586
NM_001379200.1(TBX1):c.447T>G (p.Phe149Leu) rs41298814
NM_001379200.1(TBX1):c.448C>T (p.Pro150Ser) rs1936725102
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser)
NM_001379200.1(TBX1):c.485T>C (p.Met162Thr)
NM_001379200.1(TBX1):c.490G>A (p.Asp164Asn)
NM_001379200.1(TBX1):c.496A>G (p.Met166Val)
NM_001379200.1(TBX1):c.502C>T (p.Leu168Phe)
NM_001379200.1(TBX1):c.507G>A (p.Met169Ile)
NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile) rs2145832375
NM_001379200.1(TBX1):c.514G>A (p.Val172Met)
NM_001379200.1(TBX1):c.518C>A (p.Pro173Gln) rs766205381
NM_001379200.1(TBX1):c.526G>A (p.Asp176Asn)
NM_001379200.1(TBX1):c.527A>G (p.Asp176Gly)
NM_001379200.1(TBX1):c.538C>A (p.Arg180=) rs746384751
NM_001379200.1(TBX1):c.538C>T (p.Arg180Trp)
NM_001379200.1(TBX1):c.539+6C>T
NM_001379200.1(TBX1):c.539G>A (p.Arg180Gln) rs770313856
NM_001379200.1(TBX1):c.562T>C (p.Trp188Arg)
NM_001379200.1(TBX1):c.569T>C (p.Val190Ala)
NM_001379200.1(TBX1):c.570G>A (p.Val190=) rs2145833805
NM_001379200.1(TBX1):c.595C>T (p.Pro199Ser)
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
NM_001379200.1(TBX1):c.608A>G (p.His203Arg)
NM_001379200.1(TBX1):c.616C>G (p.Pro206Ala)
NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)
NM_001379200.1(TBX1):c.646A>G (p.Met216Val) rs1224140312
NM_001379200.1(TBX1):c.667G>A (p.Asp223Asn) rs2145834053
NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys)
NM_001379200.1(TBX1):c.706G>A (p.Gly236Ser) rs1294894854
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr) rs965143242
NM_001379200.1(TBX1):c.711+6C>T
NM_001379200.1(TBX1):c.732C>T (p.His244=)
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
NM_001379200.1(TBX1):c.761A>C (p.Tyr254Ser)
NM_001379200.1(TBX1):c.761A>G (p.Tyr254Cys)
NM_001379200.1(TBX1):c.772C>T (p.Arg258Cys)
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln) rs553807294
NM_001379200.1(TBX1):c.796G>A (p.Glu266Lys)
NM_001379200.1(TBX1):c.801G>T (p.Glu267Asp)
NM_001379200.1(TBX1):c.820T>C (p.Phe274Leu)
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs144848597
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
NM_001379200.1(TBX1):c.848C>G (p.Thr283Ser) rs2145835312
NM_001379200.1(TBX1):c.884T>C (p.Ile295Thr)
NM_001379200.1(TBX1):c.911T>C (p.Phe304Ser)
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr) rs1936813859
NM_001379200.1(TBX1):c.92G>T (p.Gly31Val)
NM_001379200.1(TBX1):c.935+16C>A rs200879129
NM_001379200.1(TBX1):c.935+17GA[2] rs770044781
NM_001379200.1(TBX1):c.938C>A (p.Pro313His) rs1014592830
NM_001379200.1(TBX1):c.938C>T (p.Pro313Leu)
NM_001379200.1(TBX1):c.949C>G (p.Arg317Gly)
NM_001379200.1(TBX1):c.950G>T (p.Arg317Leu)
NM_001379200.1(TBX1):c.954_965del (p.Gly319_Pro322del)
NM_001379200.1(TBX1):c.955G>T (p.Gly319Cys) rs41298838
NM_001379200.1(TBX1):c.962T>C (p.Leu321Pro) rs2145836969
NM_001379200.1(TBX1):c.965C>A (p.Pro322Gln)
NM_001379200.1(TBX1):c.971T>G (p.Met324Arg)
NM_001379200.1(TBX1):c.972G>C (p.Met324Ile)
NM_001379200.1(TBX1):c.974G>C (p.Ser325Thr) rs775788782
NM_001379200.1(TBX1):c.985C>T (p.Arg329Cys) rs773107514
NM_080647.1(TBX1):c.-4_6del (p.Met1fs)
NM_080647.1(TBX1):c.28A>G (p.Met10Val) rs1936578247
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461

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