ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 39
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HGVS dbSNP
NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del
NM_001079668.3(NKX2-1):c.*14C>T rs755542970
NM_001079668.3(NKX2-1):c.*185_*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*209T>A rs572546897
NM_001079668.3(NKX2-1):c.*210T>A rs10139625
NM_001079668.3(NKX2-1):c.*210dup rs886050480
NM_001079668.3(NKX2-1):c.*292dup rs140427692
NM_001079668.3(NKX2-1):c.*436A>C rs79849967
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.*470A>G rs886050479
NM_001079668.3(NKX2-1):c.*544G>A rs886050478
NM_001079668.3(NKX2-1):c.*579C>G rs566916288
NM_001079668.3(NKX2-1):c.*581del rs534281105
NM_001079668.3(NKX2-1):c.*820A>G rs886050477
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983
NM_001079668.3(NKX2-1):c.1143_1145CTC[1] (p.Ser383del) rs903233524
NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=) rs886050481
NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) rs747491554
NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)
NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs) rs587776709
NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=) rs886050484
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.535G>T (p.Val179Leu) rs575848748
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
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.657G>A (p.Pro219=) rs778886269
NM_001079668.3(NKX2-1):c.672_673dup (p.Ala225fs) rs587776707
NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met)
NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe) rs137852692
NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=) rs886050483
NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)
NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser) rs886050482
NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs)

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