ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance for Hystrix-like ichthyosis with deafness

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Total variants: 8
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NM_004004.5(GJB2):c.*1206T>G rs886050026
NM_004004.5(GJB2):c.*1291_*1294delAGTA rs886050025
NM_004004.5(GJB2):c.*423C>T rs112457424
NM_004004.5(GJB2):c.*482A>G rs886050028
NM_004004.5(GJB2):c.*598C>A rs550600399
NM_004004.5(GJB2):c.*800A>G rs886050027
NM_004004.5(GJB2):c.*979A>G rs546826225
NM_004004.5(GJB2):c.339T>G (p.Ser113Arg) rs80338946

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