ClinVar Miner

List of variants reported as pathogenic for Congenital myotonia, autosomal recessive form by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)	rs770900468	0.00001
NM_000083.3(CLCN1):c.2364+2T>A	rs886041384	0.00001

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