ClinVar Miner

List of variants reported as likely benign for Hennekam syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (5):

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_133459.4(CCBE1):c.265+8A>C	rs181010692	0.00052
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)	rs144169027	0.00024
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)	rs191592668	0.00013

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