ClinVar Miner

List of variants in gene CLCN1 reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 7
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NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del) rs1554438053
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn) rs1554438471
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.434-1_437del rs1563074191

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