ClinVar Miner

List of variants in gene CLCN2 reported by Ute Scholl Laboratory, Heinrich Heine University Duesseldorf

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661 0.00001
NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter) rs1553856214
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg) rs1553853557
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys) rs758379595
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn) rs1553857113

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