ClinVar Miner

List of variants in gene GJB1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
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.514C>T (p.Pro172Ser) rs104894811 0.00001
NM_000166.6(GJB1):c.546C>T (p.Ser182=) rs781639935 0.00001
NM_000166.6(GJB1):c.705C>T (p.Phe235=) rs760150310 0.00001
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-17G>C rs1555935794
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.139G>A (p.Glu47Lys) rs2092542839
NM_000166.6(GJB1):c.183C>A (p.Asn61Lys) rs1364055284
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn) rs1602349017
NM_000166.6(GJB1):c.265C>G (p.Leu89Val) rs1602349029
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) rs1555937145
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter) rs1602349302
NM_000166.6(GJB1):c.439G>T (p.Ala147Ser)
NM_000166.6(GJB1):c.502T>A (p.Cys168Ser) rs1057518780
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn) rs1555937223
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.556dup (p.Glu186fs) rs1602349655
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
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.668G>A (p.Arg223His) rs1218391757
NM_000166.6(GJB1):c.689G>A (p.Arg230His) rs780335726
NM_001097642.3(GJB1):c.-16-580T>G rs2147944267

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