ClinVar Miner

List of variants in gene TBX5 reported as likely benign for aortic disorder

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
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.100G>T (p.Ala34Ser) rs368311885 0.00025
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.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.1293C>G (p.Thr431=) rs143971376 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.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.242+9G>T rs186666277 0.00003
NM_181486.4(TBX5):c.276G>C (p.Thr92=) rs773971213 0.00003
NM_181486.4(TBX5):c.363-6A>G rs757819289 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.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.1380C>T (p.Ser460=) rs575162861 0.00001
NM_181486.4(TBX5):c.1413G>A (p.Gly471=) rs764756835 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.579A>G (p.Gly193=) rs967802452 0.00001
NM_181486.4(TBX5):c.664-14C>T rs751285432 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.101C>T (p.Ala34Val) rs761952835
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
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.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.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.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.216G>A (p.Thr72=)
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
NM_181486.4(TBX5):c.242+15T>C
NM_181486.4(TBX5):c.242+18G>A
NM_181486.4(TBX5):c.243-13C>T
NM_181486.4(TBX5):c.243-20_243-5del rs2136418321
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
NM_181486.4(TBX5):c.362+13G>T
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
NM_181486.4(TBX5):c.510+8C>A
NM_181486.4(TBX5):c.511-9del rs775035000
NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
NM_181486.4(TBX5):c.555C>T (p.Ile185=) rs142631741
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.627T>C (p.Thr209=)
NM_181486.4(TBX5):c.663+16A>G rs752606041
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
NM_181486.4(TBX5):c.717T>C (p.Ser239=)
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
NM_181486.4(TBX5):c.730C>T (p.Leu244=)
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.842T>G (p.Leu281Arg)
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.864G>A (p.Gly288=)
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
NM_181486.4(TBX5):c.982+11T>G
NM_181486.4(TBX5):c.982+14C>T
NM_181486.4(TBX5):c.982+20G>A rs1231635306
NM_181486.4(TBX5):c.983-13C>T
NM_181486.4(TBX5):c.983-8C>T

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