ClinVar Miner

List of variants reported as likely benign for T-cell immunodeficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser) rs565927787 0.00107
NM_001379200.1(TBX1):c.1037-15C>T rs533097263 0.00087
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala) rs952890575 0.00059
NM_001379200.1(TBX1):c.540-8C>T rs72646960 0.00049
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln) rs555522870 0.00026
NM_001379200.1(TBX1):c.913C>A (p.Arg305=) rs751339103 0.00015
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln) rs918788695 0.00014
NM_001379200.1(TBX1):c.594G>A (p.Thr198=) rs138724943 0.00013
NM_001379200.1(TBX1):c.936-8G>T rs753380966 0.00011
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.539+7G>A rs780062926 0.00009
NM_001379200.1(TBX1):c.540-15C>G rs45561334 0.00009
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=) rs1443686047 0.00008
NM_001379200.1(TBX1):c.961C>T (p.Leu321=) rs745951558 0.00007
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.540-13C>T rs200902332 0.00006
NM_001379200.1(TBX1):c.657C>T (p.Ile219=) rs141186024 0.00006
NM_001379200.1(TBX1):c.666C>T (p.Phe222=) rs546513284 0.00006
NM_001379200.1(TBX1):c.624G>A (p.Ser208=) rs754390970 0.00005
NM_001379200.1(TBX1):c.978C>T (p.Ala326=) rs772039142 0.00005
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=) rs941116789 0.00004
NM_001379200.1(TBX1):c.201C>G (p.Pro67=) rs1310802135 0.00004
NM_001379200.1(TBX1):c.438-5C>G rs972035685 0.00004
NM_001379200.1(TBX1):c.489C>T (p.Ala163=) rs41298816 0.00004
NM_001379200.1(TBX1):c.867+11G>A rs180798122 0.00004
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp) rs756543718 0.00003
NM_001379200.1(TBX1):c.1359C>T (p.His453=) rs1220689917 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.711+7G>A rs369332029 0.00003
NM_080647.1(TBX1):c.15C>A (p.Thr5=) rs764497467 0.00003
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=) rs1381402015 0.00002
NM_001379200.1(TBX1):c.1170C>T (p.Gly390=) rs1936852453 0.00002
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly) rs745858331 0.00002
NM_001379200.1(TBX1):c.1485G>T (p.Pro495=) rs750574356 0.00002
NM_001379200.1(TBX1):c.270C>A (p.Ser90Arg) rs1478778776 0.00002
NM_001379200.1(TBX1):c.393G>A (p.Glu131=) rs892270450 0.00002
NM_001379200.1(TBX1):c.540-12G>A rs1243576480 0.00002
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=) rs772390067 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.1008C>G (p.Ser336=) rs1489288021 0.00001
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=) rs1360989561 0.00001
NM_001379200.1(TBX1):c.1037-10C>T rs1187093140 0.00001
NM_001379200.1(TBX1):c.1037-18C>T rs1464749962 0.00001
NM_001379200.1(TBX1):c.1188C>T (p.Gly396=) rs1046003511 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.1245C>T (p.Gly415=) rs780344405 0.00001
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=) rs755047093 0.00001
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=) rs770781746 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.1371G>A (p.Pro457=) rs768572721 0.00001
NM_001379200.1(TBX1):c.1377G>C (p.Ala459=) rs771540171 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.1437C>T (p.Ala479=) rs1415301935 0.00001
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=) rs770702512 0.00001
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=) rs770702512 0.00001
NM_001379200.1(TBX1):c.279C>T (p.Ala93=) rs1191392752 0.00001
NM_001379200.1(TBX1):c.318C>G (p.Ala106=) rs767905417 0.00001
NM_001379200.1(TBX1):c.437+10C>T rs765377233 0.00001
NM_001379200.1(TBX1):c.438-7C>A rs199903273 0.00001
NM_001379200.1(TBX1):c.525C>T (p.Asp175=) rs538317719 0.00001
NM_001379200.1(TBX1):c.549C>T (p.Phe183=) rs1468073803 0.00001
NM_001379200.1(TBX1):c.588T>C (p.Pro196=) rs1936758322 0.00001
NM_001379200.1(TBX1):c.636C>T (p.Gly212=) rs779173153 0.00001
NM_001379200.1(TBX1):c.663C>T (p.Ser221=) rs1438172581 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.768C>T (p.Asp256=) rs1266161483 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.868-11C>T rs1936811503 0.00001
NM_001379200.1(TBX1):c.868-19C>T rs1201011175 0.00001
NM_001379200.1(TBX1):c.935+13C>T rs779209396 0.00001
NM_001379200.1(TBX1):c.936-11C>A rs917326981 0.00001
NM_001379200.1(TBX1):c.1008C>T (p.Ser336=)
NM_001379200.1(TBX1):c.1011G>A (p.Pro337=)
NM_001379200.1(TBX1):c.1020C>T (p.Pro340=)
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=) rs1227296562
NM_001379200.1(TBX1):c.1029G>A (p.Thr343=)
NM_001379200.1(TBX1):c.1036+11G>A
NM_001379200.1(TBX1):c.1036+17G>A rs1601292943
NM_001379200.1(TBX1):c.1036+18G>A
NM_001379200.1(TBX1):c.1036+18G>C rs2145837264
NM_001379200.1(TBX1):c.1037-12C>T
NM_001379200.1(TBX1):c.1037-14G>T
NM_001379200.1(TBX1):c.1037-15C>G
NM_001379200.1(TBX1):c.1037-17C>G
NM_001379200.1(TBX1):c.1037-6C>T
NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)
NM_001379200.1(TBX1):c.1074G>C (p.Ala358=)
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.108C>T (p.Phe36=) rs1378203817
NM_001379200.1(TBX1):c.1095G>A (p.Gly365=)
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=) rs1010293843
NM_001379200.1(TBX1):c.1104G>C (p.Ala368=)
NM_001379200.1(TBX1):c.1120C>T (p.Leu374=)
NM_001379200.1(TBX1):c.1125C>T (p.Ala375=) rs1936849382
NM_001379200.1(TBX1):c.1137C>T (p.Ser379=)
NM_001379200.1(TBX1):c.114C>A (p.Gly38=)
NM_001379200.1(TBX1):c.114C>T (p.Gly38=)
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=) rs1354472648
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3]) rs1288296547
NM_001379200.1(TBX1):c.1158C>T (p.Gly386=)
NM_001379200.1(TBX1):c.1161C>G (p.Gly387=)
NM_001379200.1(TBX1):c.1167C>A (p.Gly389=) rs111605258
NM_001379200.1(TBX1):c.1167C>T (p.Gly389=)
NM_001379200.1(TBX1):c.117C>T (p.Ala39=)
NM_001379200.1(TBX1):c.1185C>T (p.Pro395=)
NM_001379200.1(TBX1):c.1194C>T (p.Pro398=)
NM_001379200.1(TBX1):c.1212C>T (p.Pro404=) rs1168835856
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln) rs746812421
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=) rs1305509653
NM_001379200.1(TBX1):c.1224G>A (p.Glu408=)
NM_001379200.1(TBX1):c.1231C>T (p.Leu411=) rs2145838647
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=) rs1228513970
NM_001379200.1(TBX1):c.1239G>C (p.Ala413=)
NM_001379200.1(TBX1):c.1239G>T (p.Ala413=)
NM_001379200.1(TBX1):c.1242C>A (p.Pro414=) rs200135498
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=) rs200135498
NM_001379200.1(TBX1):c.1251G>C (p.Ser417=) rs770781746
NM_001379200.1(TBX1):c.1260G>A (p.Leu420=)
NM_001379200.1(TBX1):c.1263C>T (p.His421=)
NM_001379200.1(TBX1):c.1269C>T (p.His423=) rs761327170
NM_001379200.1(TBX1):c.126C>T (p.Pro42=)
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=) rs2145838867
NM_001379200.1(TBX1):c.1296C>T (p.Tyr432=)
NM_001379200.1(TBX1):c.1311G>A (p.Gly437=)
NM_001379200.1(TBX1):c.1317G>A (p.Lys439=)
NM_001379200.1(TBX1):c.1341G>T (p.Leu447=)
NM_001379200.1(TBX1):c.1356C>T (p.Gly452=)
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup) rs774578030
NM_001379200.1(TBX1):c.1377G>A (p.Ala459=)
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=) rs771540171
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del) rs753713234
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=) rs753192876
NM_001379200.1(TBX1):c.1402G>T (p.Val468Leu) rs764197422
NM_001379200.1(TBX1):c.1410A>G (p.Pro470=)
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del) rs764911027
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del) rs777514486
NM_001379200.1(TBX1):c.141C>T (p.Tyr47=)
NM_001379200.1(TBX1):c.1422C>T (p.Ala474=)
NM_001379200.1(TBX1):c.1422CGC[1] (p.Ala483_Ala485del)
NM_001379200.1(TBX1):c.1428C>T (p.Ala476=)
NM_001379200.1(TBX1):c.1431C>A (p.Ala477=)
NM_001379200.1(TBX1):c.1431_1439del (p.Ala483_Ala485del) rs774489872
NM_001379200.1(TBX1):c.1434T>C (p.Ala478=)
NM_001379200.1(TBX1):c.1434T>G (p.Ala478=)
NM_001379200.1(TBX1):c.1437C>G (p.Ala479=)
NM_001379200.1(TBX1):c.1440A>G (p.Ala480=)
NM_001379200.1(TBX1):c.1440_1448del (p.Ala483_Ala485del) rs748434309
NM_001379200.1(TBX1):c.1443T>C (p.Ala481=)
NM_001379200.1(TBX1):c.1473C>T (p.Ala491=) rs775895785
NM_001379200.1(TBX1):c.1488C>T (p.Pro496=)
NM_001379200.1(TBX1):c.1500C>T (p.Asp500=)
NM_001379200.1(TBX1):c.153G>A (p.Glu51=)
NM_001379200.1(TBX1):c.156C>A (p.Pro52=)
NM_001379200.1(TBX1):c.156C>T (p.Pro52=)
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup) rs886038791
NM_001379200.1(TBX1):c.183G>T (p.Pro61=) rs1422322991
NM_001379200.1(TBX1):c.195C>A (p.Ala65=)
NM_001379200.1(TBX1):c.225G>C (p.Pro75=)
NM_001379200.1(TBX1):c.228G>T (p.Pro76=)
NM_001379200.1(TBX1):c.234C>T (p.Ala78=)
NM_001379200.1(TBX1):c.237C>T (p.Tyr79=)
NM_001379200.1(TBX1):c.240G>A (p.Pro80=)
NM_001379200.1(TBX1):c.246G>T (p.Ala82=) rs1201666534
NM_001379200.1(TBX1):c.258G>A (p.Gly86=)
NM_001379200.1(TBX1):c.258G>C (p.Gly86=)
NM_001379200.1(TBX1):c.273C>T (p.Ala91=) rs1936644941
NM_001379200.1(TBX1):c.285C>G (p.Pro95=)
NM_001379200.1(TBX1):c.297G>A (p.Gly99=)
NM_001379200.1(TBX1):c.306C>T (p.Cys102=)
NM_001379200.1(TBX1):c.324G>T (p.Ala108=)
NM_001379200.1(TBX1):c.363G>T (p.Val121=)
NM_001379200.1(TBX1):c.369A>G (p.Leu123=) rs541899328
NM_001379200.1(TBX1):c.381G>T (p.Ala127=)
NM_001379200.1(TBX1):c.399C>T (p.Asn133=) rs2145828636
NM_001379200.1(TBX1):c.429G>A (p.Lys143=)
NM_001379200.1(TBX1):c.432C>T (p.Ala144=)
NM_001379200.1(TBX1):c.437+18C>G
NM_001379200.1(TBX1):c.437+18C>T
NM_001379200.1(TBX1):c.437+8C>T
NM_001379200.1(TBX1):c.45T>C (p.His15=)
NM_001379200.1(TBX1):c.465G>A (p.Lys155=)
NM_001379200.1(TBX1):c.474C>T (p.Gly158=)
NM_001379200.1(TBX1):c.483C>G (p.Pro161=)
NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)
NM_001379200.1(TBX1):c.513C>T (p.Phe171=) rs764371266
NM_001379200.1(TBX1):c.519G>T (p.Pro173=)
NM_001379200.1(TBX1):c.51C>T (p.Cys17=) rs2145827460
NM_001379200.1(TBX1):c.539+14dup
NM_001379200.1(TBX1):c.539+16dup
NM_001379200.1(TBX1):c.539+7G>C rs780062926
NM_001379200.1(TBX1):c.539+8A>T
NM_001379200.1(TBX1):c.539+8_539+10dup rs2145832489
NM_001379200.1(TBX1):c.540-12G>C
NM_001379200.1(TBX1):c.540-18C>T
NM_001379200.1(TBX1):c.546C>T (p.Ala182=) rs1035684349
NM_001379200.1(TBX1):c.573G>C (p.Ala191=)
NM_001379200.1(TBX1):c.591C>T (p.Ala197=) rs1601289330
NM_001379200.1(TBX1):c.603C>T (p.Arg201=) rs761495882
NM_001379200.1(TBX1):c.606G>A (p.Val202=)
NM_001379200.1(TBX1):c.612C>T (p.Tyr204=)
NM_001379200.1(TBX1):c.615C>T (p.His205=)
NM_001379200.1(TBX1):c.627T>C (p.Pro209=)
NM_001379200.1(TBX1):c.639G>A (p.Ala213=)
NM_001379200.1(TBX1):c.639G>T (p.Ala213=) rs778071107
NM_001379200.1(TBX1):c.654A>G (p.Gln218=) rs2145834016
NM_001379200.1(TBX1):c.657C>A (p.Ile219=)
NM_001379200.1(TBX1):c.660G>A (p.Val220=)
NM_001379200.1(TBX1):c.679C>T (p.Leu227=)
NM_001379200.1(TBX1):c.684C>A (p.Thr228=)
NM_001379200.1(TBX1):c.702C>T (p.Asp234=) rs2145834112
NM_001379200.1(TBX1):c.708C>G (p.Gly236=)
NM_001379200.1(TBX1):c.711+13C>T
NM_001379200.1(TBX1):c.711+16C>T
NM_001379200.1(TBX1):c.712-12C>T
NM_001379200.1(TBX1):c.712-4C>G
NM_001379200.1(TBX1):c.754G>A (p.Val252Met)
NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)
NM_001379200.1(TBX1):c.795C>T (p.Ala265=)
NM_001379200.1(TBX1):c.813C>T (p.Thr271=) rs989667101
NM_001379200.1(TBX1):c.840C>G (p.Thr280=)
NM_001379200.1(TBX1):c.843G>A (p.Ala281=)
NM_001379200.1(TBX1):c.867+12_867+24del
NM_001379200.1(TBX1):c.867+18G>A
NM_001379200.1(TBX1):c.868-16A>T
NM_001379200.1(TBX1):c.868-19CA[3]
NM_001379200.1(TBX1):c.868-20T>G rs2145836392
NM_001379200.1(TBX1):c.868-4G>A
NM_001379200.1(TBX1):c.868-6C>T
NM_001379200.1(TBX1):c.868-7C>T
NM_001379200.1(TBX1):c.870C>A (p.Ile290=)
NM_001379200.1(TBX1):c.876G>A (p.Gln292=)
NM_001379200.1(TBX1):c.897C>T (p.Pro299=)
NM_001379200.1(TBX1):c.909C>T (p.Gly303=)
NM_001379200.1(TBX1):c.930G>A (p.Glu310=) rs1185050794
NM_001379200.1(TBX1):c.935+14C>T
NM_001379200.1(TBX1):c.935+15C>T
NM_001379200.1(TBX1):c.935+17G>A
NM_001379200.1(TBX1):c.935+17del
NM_001379200.1(TBX1):c.935+19G>C
NM_001379200.1(TBX1):c.936-15G>A
NM_001379200.1(TBX1):c.936-15G>C
NM_001379200.1(TBX1):c.936-16C>A
NM_001379200.1(TBX1):c.936-4G>C
NM_001379200.1(TBX1):c.936-6C>T
NM_001379200.1(TBX1):c.936-8G>A rs753380966
NM_001379200.1(TBX1):c.936-9C>G
NM_001379200.1(TBX1):c.936-9C>T
NM_001379200.1(TBX1):c.942G>T (p.Arg314=)
NM_001379200.1(TBX1):c.966G>A (p.Pro322=)
NM_001379200.1(TBX1):c.990G>A (p.Ser330=)
NM_080647.1(TBX1):c.15C>T (p.Thr5=) rs764497467
NM_080647.1(TBX1):c.34+12G>A
NM_080647.1(TBX1):c.34+17T>A
NM_080647.1(TBX1):c.34+18G>C

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