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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	rs371024165	0.00015
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004
NM_004004.6(GJB2):c.11del (p.Gly4fs)	rs1555342014
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950

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