ClinVar Miner

List of variants studied for brain-lung-thyroid syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
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Total variants: 36
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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.29G>A (p.Arg10Gln) rs201979429 0.00048
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983 0.00009
NM_001079668.3(NKX2-1):c.*14C>T rs755542970 0.00004
NM_001079668.3(NKX2-1):c.-71C>A rs886050485 0.00003
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.*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.-85G>T rs2076751
NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) rs747491554
NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu) rs575848748
NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)
NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=) rs1881103250
NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp) rs1881092018
NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=) rs1064922

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