ClinVar Miner

List of variants reported as uncertain significance for Brain-lung-thyroid syndrome

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.*536C>T rs1452409825 0.00019
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.*544G>A rs886050478 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 0.00002
NM_001079668.3(NKX2-1):c.*470A>G rs886050479 0.00001
NM_001079668.3(NKX2-1):c.*820A>G rs886050477 0.00001
NM_001079668.3(NKX2-1):c.-71C>A rs886050485 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.*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.*577C>T rs1045686887
NM_001079668.3(NKX2-1):c.1114G>T (p.Gly372Cys)
NM_001079668.3(NKX2-1):c.1143CTC[1] (p.Ser383del) rs903233524
NM_001079668.3(NKX2-1):c.1173C>T (p.Ser391=) rs931563042
NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) rs747491554
NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met) rs1594404015
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.890G>A (p.Gly297Asp) rs866144511
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.961C>A (p.Gln321Lys) rs1594403453

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