ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP
NM_001079668.3(NKX2-1):c.*179T>C
NM_001079668.3(NKX2-1):c.*209T>A rs572546897
NM_001079668.3(NKX2-1):c.*210T>A rs10139625
NM_001079668.3(NKX2-1):c.*292dup rs140427692
NM_001079668.3(NKX2-1):c.*436A>C rs79849967
NM_001079668.3(NKX2-1):c.*579C>G rs566916288
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347
NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile) rs201631950
NM_001079668.3(NKX2-1):c.464-2A>T rs587776708
NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu) rs575848748

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