List of variants in gene GJB2 reported as likely pathogenic by CeGaT Center for Human Genetics 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	rs529500747	0.00011
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)	rs111033296	0.00002
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)	rs765921870	0.00001

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