ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Total variants: 25
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HGVS dbSNP
NM_004004.6(GJB2):c.-112A>C rs1555342240
NM_004004.6(GJB2):c.-127G>C rs727503068
NM_004004.6(GJB2):c.-12C>T
NM_004004.6(GJB2):c.-170C>G
NM_004004.6(GJB2):c.-22-18T>A rs778602324
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-22-7T>C
NM_004004.6(GJB2):c.-47C>G rs1555342239
NM_004004.6(GJB2):c.111_113del (p.Val38del)
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr)
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.302_304AGA[2] (p.Lys103del) rs1555341934
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr)
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)

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