ClinVar Miner

List of variants studied for Treacher-Collins syndrome by Johns Hopkins Genomics,Johns Hopkins University

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter)
NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met)

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