ClinVar Miner

List of variants in gene CLCN1 reported as pathogenic by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.774+1G>A rs776073429
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701

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