ClinVar Miner

List of variants reported as uncertain significance for intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_006565.4(CTCF):c.638G>A (p.Arg213His)	rs1390969954	0.00001
NM_001378778.1(MPDZ):c.4384-282C>G
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)	rs1131691283

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