List of variants in gene GJB2 reported as pathogenic for not specified

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: 14

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HGVS	dbSNP
NM_004004.6(GJB2):c.-22-2A>C	rs201895089
NM_004004.6(GJB2):c.-23+1G>A	rs80338940
NM_004004.6(GJB2):c.11del (p.Gly4fs)	rs1555342014
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.1A>G (p.Met1Val)	rs111033293
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083
NM_004004.6(GJB2):c.299_300del (p.His100fs)	rs111033204
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	rs587783647
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	rs371024165

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