ClinVar Miner

List of variants reported as likely pathogenic for brain-lung-thyroid syndrome by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp) rs1881114341

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