ClinVar Miner

List of variants in gene CLCN1 reported as pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000083.2(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917
NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) rs797045032
NM_000083.2(CLCN1):c.870C>G (p.Ile290Met) rs80356690

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