ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 6
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NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs) rs1594406926
NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp)
NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro) rs1555349218
NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter) rs1594403990
NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) rs1057519223
NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs) rs1594403511

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