ClinVar Miner

List of variants reported as pathogenic for brain-lung-thyroid syndrome by Johns Hopkins Genomics, Johns Hopkins University

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.(?_-1)_*(1206_?)del
NM_001079668.3(NKX2-1):c.278_306del (p.Ala93fs) rs1881214272

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