ClinVar Miner

List of variants reported as uncertain significance for Hearing loss by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004004.6(GJB2):c.226C>G (p.Leu76Val) rs1566528748
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228

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