ClinVar Miner

List of variants in gene TBX19 reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_005149.3(TBX19):c.1310C>T (p.Ala437Val) rs147003438 0.00005
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) rs74315376 0.00005
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_005149.3(TBX19):c.916+2T>G rs763382655 0.00001
NM_005149.3(TBX19):c.158_159del (p.Arg53fs) rs763818059
NM_005149.3(TBX19):c.210G>T (p.Met70Ile) rs1558190316
NM_005149.3(TBX19):c.265del (p.Leu89fs) rs1558190339
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe) rs1558190989
NM_005149.3(TBX19):c.562G>A (p.Glu188Lys) rs1159356681
NM_005149.3(TBX19):c.665+1del rs1558192351
NM_005149.3(TBX19):c.782del (p.Asn261fs) rs730880274

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