ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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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.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692

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