ClinVar Miner

List of variants reported as likely pathogenic for Treacher-Collins syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001371623.1(TCOF1):c.3052del (p.Arg1018fs)	rs2534207979
NM_001371623.1(TCOF1):c.4123G>T (p.Glu1375Ter)	rs1464183714

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