ClinVar Miner

List of variants in gene TBX5 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_181486.4(TBX5):c.1033A>G (p.Thr345Ala)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.192G>T (p.Trp64Cys) rs1555226581
NM_181486.4(TBX5):c.623A>T (p.Glu208Val) rs2136410771

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