List of variants in gene GJB2 reported by Laboratory of Prof. Karen Avraham, Tel Aviv University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_004004.6(GJB2):c.487A>G (p.Met163Val)	rs80338949	0.00009
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	rs749693224	0.00001
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)	rs878853241

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