ClinVar Miner

List of variants in gene combination NKX2-1, SFTA3 reported as pathogenic for brain-lung-thyroid syndrome

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del
NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs) rs587776709
NM_001079668.3(NKX2-1):c.464-2A>G rs587776708
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) rs863225300
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.645C>G (p.Tyr215Ter) rs1566615444
NM_001079668.3(NKX2-1):c.672_673dup (p.Ala225fs) rs587776707
NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe) rs137852692

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