ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.-22-12C>G rs9578260
NM_004004.6(GJB2):c.-7G>A rs398123813
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu) rs1555341843
NM_004004.6(GJB2):c.582C>T (p.Phe194=) rs794727271
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640
NM_004004.6(GJB2):c.77_106dup (p.Leu36_Val37insProValLeuPheIlePheArgIleMetIle) rs398123815

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