ClinVar Miner

List of variants reported as uncertain significance for Menke-Hennekam syndrome by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931

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