List of variants in gene TBX5 reported as likely benign for familial bicuspid aortic valve

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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