ClinVar Miner

List of variants in gene TCOF1 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 3
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NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585

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