ClinVar Miner

List of variants reported as uncertain significance for Hennekam syndrome by Revvity Omics, Revvity

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln)	rs200772179	0.00038
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly)	rs530079482	0.00001

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