ClinVar Miner

List of variants in gene GJB2 reported as likely benign by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_004004.5(GJB2):c.*1016A>G rs537683957
NM_004004.5(GJB2):c.*1033G>A rs185790172
NM_004004.5(GJB2):c.*114T>C rs182085649
NM_004004.5(GJB2):c.*1C>T rs111033327
NM_004004.5(GJB2):c.*3C>A rs111033460
NM_004004.5(GJB2):c.*412A>C rs547859391
NM_004004.5(GJB2):c.*544T>C rs564755659
NM_004004.5(GJB2):c.*786G>A rs187158699
NM_004004.5(GJB2):c.-15C>T rs72561725
NM_004004.5(GJB2):c.-45C>A rs397516868
NM_004004.5(GJB2):c.-6T>A rs148136545
NM_004004.5(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.5(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.5(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.5(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188

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