ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983
NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup) rs577015120
NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys) rs1594403453

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