ClinVar Miner

List of variants reported as pathogenic for brain-lung-thyroid syndrome by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.267dup (p.His90fs) rs1594407150
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) rs863225300

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