ClinVar Miner

List of variants in gene TBX5 reported as uncertain significance for Cardiovascular phenotype

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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser) rs368311885 0.00025
NM_181486.4(TBX5):c.1381G>A (p.Val461Met) rs201152128 0.00015
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 0.00011
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_181486.4(TBX5):c.1273C>A (p.His425Asn) rs755152246 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) rs772844823 0.00003
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu) rs765204502 0.00001
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met) rs759766836 0.00001
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn) rs773568096 0.00001
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu) rs759976245 0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val) rs1243477560 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.950A>G (p.His317Arg) rs1869524074 0.00001
NM_181486.4(TBX5):c.1019A>C (p.Lys340Thr)
NM_181486.4(TBX5):c.101C>T (p.Ala34Val) rs761952835
NM_181486.4(TBX5):c.1021C>G (p.Pro341Ala)
NM_181486.4(TBX5):c.1029G>A (p.Met343Ile)
NM_181486.4(TBX5):c.1033A>G (p.Thr345Ala)
NM_181486.4(TBX5):c.1045G>A (p.Glu349Lys)
NM_181486.4(TBX5):c.104C>A (p.Pro35His)
NM_181486.4(TBX5):c.1063C>T (p.Arg355Cys)
NM_181486.4(TBX5):c.1073A>G (p.Tyr358Cys)
NM_181486.4(TBX5):c.1076C>T (p.Pro359Leu)
NM_181486.4(TBX5):c.1129G>A (p.Ala377Thr)
NM_181486.4(TBX5):c.1130C>T (p.Ala377Val)
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1153C>T (p.Pro385Ser)
NM_181486.4(TBX5):c.1168G>A (p.Val390Met)
NM_181486.4(TBX5):c.119C>G (p.Ser40Trp)
NM_181486.4(TBX5):c.1205C>T (p.Pro402Leu)
NM_181486.4(TBX5):c.1228T>C (p.Cys410Arg)
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
NM_181486.4(TBX5):c.1295C>T (p.Ser432Leu)
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
NM_181486.4(TBX5):c.1321G>A (p.Gly441Ser)
NM_181486.4(TBX5):c.1332C>A (p.Asn444Lys)
NM_181486.4(TBX5):c.133G>A (p.Ala45Thr)
NM_181486.4(TBX5):c.1361T>C (p.Met454Thr)
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile) rs971831243
NM_181486.4(TBX5):c.1376C>A (p.Thr459Asn)
NM_181486.4(TBX5):c.1388A>C (p.His463Pro)
NM_181486.4(TBX5):c.1407G>C (p.Gln469His)
NM_181486.4(TBX5):c.140C>G (p.Thr47Ser)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1469C>T (p.Ser490Phe)
NM_181486.4(TBX5):c.1484G>A (p.Arg495Lys)
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.1519G>A (p.Gly507Arg)
NM_181486.4(TBX5):c.1520G>A (p.Gly507Glu)
NM_181486.4(TBX5):c.1523T>C (p.Val508Ala)
NM_181486.4(TBX5):c.1538A>G (p.Glu513Gly)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.157G>A (p.Gly53Arg)
NM_181486.4(TBX5):c.167T>A (p.Val56Glu)
NM_181486.4(TBX5):c.182G>A (p.Arg61Lys)
NM_181486.4(TBX5):c.207A>C (p.Glu69Asp)
NM_181486.4(TBX5):c.208G>A (p.Val70Met)
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys) rs886039131
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.289A>G (p.Lys97Glu)
NM_181486.4(TBX5):c.322C>G (p.Pro108Ala)
NM_181486.4(TBX5):c.328G>A (p.Asp110Asn)
NM_181486.4(TBX5):c.343A>G (p.Lys115Glu)
NM_181486.4(TBX5):c.349G>T (p.Ala117Ser)
NM_181486.4(TBX5):c.363-4C>A
NM_181486.4(TBX5):c.368T>C (p.Val123Ala) rs1555226329
NM_181486.4(TBX5):c.37A>T (p.Thr13Ser)
NM_181486.4(TBX5):c.383A>G (p.Glu128Gly)
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.451C>G (p.Gln151Glu)
NM_181486.4(TBX5):c.455T>C (p.Leu152Pro)
NM_181486.4(TBX5):c.472C>T (p.Leu158Phe)
NM_181486.4(TBX5):c.4G>A (p.Ala2Thr)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+3G>A
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.604T>C (p.Cys202Arg)
NM_181486.4(TBX5):c.610C>A (p.His204Asn)
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.622G>A (p.Glu208Lys)
NM_181486.4(TBX5):c.623A>T (p.Glu208Val) rs2136410771
NM_181486.4(TBX5):c.629C>A (p.Ala210Glu)
NM_181486.4(TBX5):c.635T>C (p.Ile212Thr)
NM_181486.4(TBX5):c.635T>G (p.Ile212Arg)
NM_181486.4(TBX5):c.691C>A (p.Pro231Thr)
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser) rs2136397905
NM_181486.4(TBX5):c.727G>A (p.Glu243Lys)
NM_181486.4(TBX5):c.73G>T (p.Asp25Tyr)
NM_181486.4(TBX5):c.798A>T (p.Lys266Asn)
NM_181486.4(TBX5):c.800T>G (p.Val267Gly)
NM_181486.4(TBX5):c.811C>A (p.His271Asn)
NM_181486.4(TBX5):c.817C>T (p.Pro273Ser)
NM_181486.4(TBX5):c.829G>A (p.Glu277Lys)
NM_181486.4(TBX5):c.859T>A (p.Leu287Met)
NM_181486.4(TBX5):c.868C>G (p.Gln290Glu)
NM_181486.4(TBX5):c.874C>A (p.Gln292Lys)
NM_181486.4(TBX5):c.885T>A (p.Asn295Lys)
NM_181486.4(TBX5):c.88A>G (p.Ser30Gly)
NM_181486.4(TBX5):c.901T>A (p.Ser301Thr)
NM_181486.4(TBX5):c.917C>T (p.Pro306Leu)
NM_181486.4(TBX5):c.92C>T (p.Ala31Val)
NM_181486.4(TBX5):c.940C>T (p.Pro314Ser)
NM_181486.4(TBX5):c.946G>C (p.Glu316Gln)
NM_181486.4(TBX5):c.958A>T (p.Ile320Phe)

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