ClinVar Miner

List of variants in gene GJB2 reported as likely benign by GeneDx

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-23+12G>A rs397516866 0.00541
NM_004004.6(GJB2):c.-23+253C>T rs7332397 0.00395
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004004.6(GJB2):c.-174C>G rs541058463 0.00097
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NC_000013.11:g.20193112C>G rs531356872

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