ClinVar Miner

List of variants reported as likely pathogenic for Brain-lung-thyroid syndrome by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs) rs2502626225
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs) rs2502626171
NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs) rs2502625649
NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs) rs2502625327
NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter) rs1292946504
NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter) rs1292946504
NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs) rs2502634899
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter) rs775015070
NM_001079668.3(NKX2-1):c.481_485del (p.Pro161fs) rs2502630122
NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs) rs2502629609
NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu) rs2139407723
NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu) rs2502629225
NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro) rs760880632
NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu) rs2502628616
NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala) rs2139407297
NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu) rs28936672
NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp) rs757694282
NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro) rs1057524869
NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter) rs2139406837
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) rs2502627258
NM_001079668.3(NKX2-1):c.997del (p.Ala333fs) rs2502626546

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