ClinVar Miner

List of variants in gene GJB2 reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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

Total variants: 1

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HGVS	dbSNP
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)	rs111033296

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