ClinVar Miner

List of variants in gene combination NKX2-1, SFTA3 reported as likely pathogenic for brain-lung-thyroid syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)
NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro) rs1555349218
NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)
NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs)

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