ClinVar Miner

List of variants reported as likely 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.1283T>C (p.Phe428Ser)	rs774843953	0.00003
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)	rs1023099235	0.00001

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