ClinVar Miner

List of variants in gene GJB2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 8
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HGVS dbSNP
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.294G>C (p.Arg98=) rs1334783390
NM_004004.6(GJB2):c.435C>T (p.Ile145=)
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820

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