ClinVar Miner

List of variants in gene combination NKX2-1, SFTA3 reported as likely benign for brain-lung-thyroid syndrome

Included ClinVar conditions (2):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
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.*14C>T rs755542970 0.00004
NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=) rs778886269 0.00002
NM_001079668.3(NKX2-1):c.*581del rs534281105

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