ClinVar Miner

List of variants in gene NKX2-1, SFTA3 studied for brain-lung-thyroid syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.*210T>A rs10139625 0.65544
NM_001079668.3(NKX2-1):c.*436A>C rs79849967 0.00803
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001079668.3(NKX2-1):c.*579C>G rs566916288 0.00374
NM_001079668.3(NKX2-1):c.*209T>A rs572546897 0.00308
NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile) rs201631950 0.00103
NM_001079668.3(NKX2-1):c.*179T>C rs550912157 0.00077
NM_001079668.3(NKX2-1):c.78-151A>G rs1003307358 0.00015
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983 0.00009
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser) rs200560568 0.00006
NM_001079668.3(NKX2-1):c.*14C>T rs755542970 0.00004
NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=) rs886050484 0.00003
NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=) rs886050483 0.00003
NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=) rs778886269 0.00002
NM_001079668.3(NKX2-1):c.*470A>G rs886050479 0.00001
NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=) rs886050481 0.00001
NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser) rs886050482 0.00001
NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del
NM_001079668.3(NKX2-1):c.*185_*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*210dup rs886050480
NM_001079668.3(NKX2-1):c.*292dup rs140427692
NM_001079668.3(NKX2-1):c.*459_*460dup rs5807883
NM_001079668.3(NKX2-1):c.*460del rs5807883
NM_001079668.3(NKX2-1):c.*460dup rs5807883
NM_001079668.3(NKX2-1):c.*536C>T rs1452409825
NM_001079668.3(NKX2-1):c.*544G>A rs886050478
NM_001079668.3(NKX2-1):c.*577C>T rs1045686887
NM_001079668.3(NKX2-1):c.*581del rs534281105
NM_001079668.3(NKX2-1):c.*820A>G rs886050477
NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs)
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)
NM_001079668.3(NKX2-1):c.1051_1063del (p.Pro351fs)
NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs)
NM_001079668.3(NKX2-1):c.1143CTC[1] (p.Ser383del) rs903233524
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.201G>A (p.Pro67=) rs747491554
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.338_342del (p.Val113fs) rs1594406926
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.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.464-2A>G rs587776708
NM_001079668.3(NKX2-1):c.464-2A>T 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.524C>A (p.Ser175Ter) rs863225300
NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu) rs575848748
NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs)
NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp) rs1881114341
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.635A>C (p.Gln212Pro) rs1555349218
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.679dup (p.Met227fs) rs2139407395
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) rs1881107186
NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met) rs1594404015
NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu)
NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe) rs137852692
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.714G>A (p.Trp238Ter) rs1594403990
NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp)
NM_001079668.3(NKX2-1):c.727C>T (p.Arg243Cys) rs28936671
NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro)
NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=) rs1881103250
NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup) rs577015120
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.890G>A (p.Gly297Asp)
NM_001079668.3(NKX2-1):c.905del (p.Ala302fs)
NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp) rs1881092018
NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=) rs1064922
NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs) rs1594403511
NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys) rs1594403453
NM_001079668.3(NKX2-1):c.997del (p.Ala333fs)

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