ClinVar Miner

List of variants in gene GJB1 reported as uncertain significance by Ambry Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984 0.00004
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000166.6(GJB1):c.811G>A (p.Ala271Thr) rs756258267 0.00002
NM_000166.6(GJB1):c.268C>T (p.Leu90Phe) rs1299325261 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) rs878853697
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys) rs1602348981
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.268C>A (p.Leu90Ile) rs1299325261
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser) rs1569214971
NM_000166.6(GJB1):c.33T>G (p.Ser11Arg)
NM_000166.6(GJB1):c.617T>G (p.Val206Gly) rs1569215431
NM_000166.6(GJB1):c.689G>A (p.Arg230His) rs780335726
NM_000166.6(GJB1):c.779A>G (p.Lys260Arg)
NM_000166.6(GJB1):c.791G>A (p.Arg264His)
NM_000166.6(GJB1):c.835C>T (p.Arg279Cys)
NM_000166.6(GJB1):c.92T>G (p.Phe31Cys) rs2147945057

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