ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance for not provided

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Total variants: 34
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HGVS dbSNP
NC_000013.11:g.20189537_20189550delTTTGTTCACACCCC
NM_004004.5(GJB2):c.*1C>T rs111033327
NM_004004.5(GJB2):c.-112A>C rs1555342240
NM_004004.5(GJB2):c.-22-12C>G rs9578260
NM_004004.5(GJB2):c.-22-18T>A rs778602324
NM_004004.5(GJB2):c.-22-6T>C rs141962118
NM_004004.5(GJB2):c.-47C>G rs1555342239
NM_004004.5(GJB2):c.-7G>A rs398123813
NM_004004.5(GJB2):c.110T>C (p.Val37Ala) rs141774369
NM_004004.5(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.5(GJB2):c.14C>T (p.Thr5Met)
NM_004004.5(GJB2):c.171G>A (p.Gln57=) rs1064797175
NM_004004.5(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.5(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.5(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.5(GJB2):c.308_310delAGA (p.Lys103del) rs1555341934
NM_004004.5(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.5(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.5(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.5(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.5(GJB2):c.425T>C (p.Phe142Ser) rs116769964
NM_004004.5(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.5(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.5(GJB2):c.518C>T (p.Pro173Leu) rs1555341843
NM_004004.5(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.5(GJB2):c.53C>G (p.Thr18Ser)
NM_004004.5(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.5(GJB2):c.582C>T (p.Phe194=) rs794727271
NM_004004.5(GJB2):c.584T>C (p.Met195Thr) rs1378679640
NM_004004.5(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.5(GJB2):c.73C>T (p.Leu25Phe) rs1555342006
NM_004004.5(GJB2):c.77_106dup30 (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle) rs398123815
NM_004004.6(GJB2):c.-22-2A>C rs201895089

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