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: 29
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del
NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)
NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)
NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)
NM_001079668.3(NKX2-1):c.267dup (p.His90fs) rs1594407150
NM_001079668.3(NKX2-1):c.278_306del (p.Ala93fs) rs1881214272
NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)
NM_001079668.3(NKX2-1):c.338dup (p.Tyr116fs) rs2139411832
NM_001079668.3(NKX2-1):c.344del (p.Gly115fs) rs587776709
NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs) rs587776709
NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)
NM_001079668.3(NKX2-1):c.464-2A>G rs587776708
NM_001079668.3(NKX2-1):c.464-9C>A
NM_001079668.3(NKX2-1):c.474del (p.Phe158fs)
NM_001079668.3(NKX2-1):c.512_576del (p.Gly171fs)
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) rs863225300
NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)
NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) rs1555349221
NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter)
NM_001079668.3(NKX2-1):c.645C>G (p.Tyr215Ter) rs1566615444
NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)
NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079668.3(NKX2-1):c.672_673dup (p.Ala225fs) rs587776707
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) rs1881107186
NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe) rs137852692
NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)

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