ClinVar Miner

List of variants in gene CLCN5 reported as likely pathogenic for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626

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