ClinVar Miner

List of variants in gene GJB1 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.467T>A (p.Leu156His) rs104894818
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala) rs104894811
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro) rs2147946898
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr) rs2147947019
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662

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