ClinVar Miner

List of variants in gene TBX5 reported as uncertain significance for aortic disease

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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NM_000192.3(TBX5):c.1064G>A (p.Arg355His) rs145784562
NM_000192.3(TBX5):c.1084C>G (p.Gln362Glu) rs765204502
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu) rs143068551
NM_000192.3(TBX5):c.1162G>A (p.Glu388Lys) rs139371720
NM_000192.3(TBX5):c.1199C>T (p.Thr400Met) rs759766836
NM_000192.3(TBX5):c.1208G>A (p.Ser403Asn) rs773568096
NM_000192.3(TBX5):c.1242C>A (p.Thr414=) rs370133092
NM_000192.3(TBX5):c.1289T>C (p.Phe430Ser) rs1396124456
NM_000192.3(TBX5):c.322C>T (p.Pro108Ser) rs376621016
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.54C>A (p.Asp18Glu) rs1479545982
NM_000192.3(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_000192.3(TBX5):c.68C>A (p.Pro23His) rs141609745
NM_000192.3(TBX5):c.729G>T (p.Glu243Asp) rs186183947
NM_000192.3(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_000192.3(TBX5):c.902C>G (p.Ser301Cys) rs973621936
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln)
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp)
NM_181486.4(TBX5):c.698C>T (p.Ala233Val)
NM_181486.4(TBX5):c.950A>G (p.His317Arg)

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