ClinVar Miner

List of variants in gene combination CLCN1, LOC123956257 reported as uncertain significance for Congenital myotonia, autosomal recessive form

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1949G>A (p.Gly650Asp)

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