ClinVar Miner

List of variants in gene GJB1 studied for Inborn genetic diseases

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Total variants: 43
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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.235C>T (p.Leu79=) rs144717157 0.00186
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 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.699G>A (p.Ser233=) rs769112084 0.00002
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.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.160A>C (p.Asn54His) rs2092542986
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) rs878853697
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
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.270C>T (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.33T>G (p.Ser11Arg)
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.617T>G (p.Val206Gly) rs1569215431
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
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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