ClinVar Miner

List of variants in gene CLCN7 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) rs2235579 0.51407
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405

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