ClinVar Miner

List of variants reported as uncertain significance for brain-lung-thyroid syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_001079668.3(NKX2-1):c.*185_*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*210dup rs886050480
NM_001079668.3(NKX2-1):c.*459_*460dup rs5807883
NM_001079668.3(NKX2-1):c.*460del rs5807883
NM_001079668.3(NKX2-1):c.*460dup rs5807883
NM_001079668.3(NKX2-1):c.*470A>G rs886050479
NM_001079668.3(NKX2-1):c.*544G>A rs886050478
NM_001079668.3(NKX2-1):c.*820A>G rs886050477
NM_001079668.3(NKX2-1):c.-71C>A rs886050485
NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=) rs886050481
NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) rs747491554
NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=) rs886050484
NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=) rs778886269
NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=) rs886050483
NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser) rs886050482

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