ClinVar Miner

List of variants in gene combination NKX2-1, SFTA3 reported by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.1025del (p.Gly342fs)
NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs)
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)
NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs)
NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs)
NM_001079668.3(NKX2-1):c.1173C>T (p.Ser391=)
NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)
NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)
NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)
NM_001079668.3(NKX2-1):c.344del (p.Gly115fs) rs587776709
NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs)
NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter) rs775015070
NM_001079668.3(NKX2-1):c.456_457delinsACGG (p.Phe152fs)
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.481_485del (p.Pro161fs)
NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs)
NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)
NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu)
NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu)
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.626G>C (p.Arg209Pro)
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.701A>T (p.Gln234Leu)
NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala)
NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)
NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu) rs28936672
NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp)
NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro)
NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter)
NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) rs1057519223
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079668.3(NKX2-1):c.905del (p.Ala302fs)
NM_001079668.3(NKX2-1):c.997del (p.Ala333fs)

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