ClinVar Miner

List of variants in gene GJB2 reported as benign for Autosomal recessive nonsyndromic hearing loss 1A

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*1067G>T rs9237 1.00000
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99765
NM_004004.6(GJB2):c.*1152G>A rs7623 0.90120
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73947
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06345
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04008
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02617
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00700
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00414
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00191
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00140
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00015
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876

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