ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs) rs1554438441
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702

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