ClinVar Miner

List of variants in gene GJB2 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408

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