ClinVar Miner

List of variants in gene TBX5 reported as pathogenic for aortic valve disease

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114839611)_(114839745_?)del
NC_000012.11:g.(?_114839621)_(114839735_?)del
NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_000192.3(TBX5):c.163_172del (p.Lys55fs)
NM_000192.3(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_000192.3(TBX5):c.362+2T>C
NM_000192.3(TBX5):c.390del (p.Met131fs) rs1565941046
NM_000192.3(TBX5):c.432dup (p.Gly145fs) rs1555226322
NM_000192.3(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_000192.3(TBX5):c.456del (p.Val153fs) rs1057520136
NM_000192.3(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_000192.3(TBX5):c.595dup (p.Thr199fs) rs1555226005
NM_000192.3(TBX5):c.629_632dup (p.Ile212fs) rs1555225989
NM_000192.3(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_000192.3(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_000192.3(TBX5):c.710G>A (p.Arg237Gln) rs104894378
NM_000192.3(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_000192.3(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_000192.3(TBX5):c.926_927del (p.Asn309fs)
NM_000192.3(TBX5):c.958del (p.Ile320fs) rs878853750

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