ClinVar Miner

List of variants in gene TBX5 reported as uncertain significance for Aortic valve disease 2

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Total variants: 78
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HGVS dbSNP gnomAD frequency
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.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) rs772844823 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_181486.4(TBX5):c.965A>G (p.His322Arg) rs759009256 0.00002
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.1322G>A (p.Gly441Asp) rs1203543672 0.00001
NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu) rs772790458 0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val) rs1243477560 0.00001
NM_181486.4(TBX5):c.322C>T (p.Pro108Ser) rs376621016 0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu) rs1479545982 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
NC_000012.11:g.(?_114793337)_(114793931_?)dup
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr) rs1319312312
NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser) rs1187747905
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
NM_181486.4(TBX5):c.1242C>A (p.Thr414=) rs370133092
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys) rs886039131
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu) rs2136418134
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr) rs1871581681
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
NM_181486.4(TBX5):c.476A>C (p.Lys159Thr) rs2136416640
NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)
NM_181486.4(TBX5):c.481A>T (p.Thr161Ser) rs2136416621
NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.529C>T (p.His177Tyr)
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
NM_181486.4(TBX5):c.663+6C>G
NM_181486.4(TBX5):c.698C>T (p.Ala233Val) rs1870766147
NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
NM_181486.4(TBX5):c.755+4G>A
NM_181486.4(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_181486.4(TBX5):c.841C>G (p.Leu281Val) rs760177359
NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
NM_181486.4(TBX5):c.927C>A (p.Asn309Lys)
NM_181486.4(TBX5):c.937C>G (p.Leu313Val)
NM_181486.4(TBX5):c.944A>G (p.Gln315Arg)

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