ClinVar Miner

List of variants reported as pathogenic for Congenital myotonia, autosomal recessive form by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter)	rs1417174086
NM_000083.3(CLCN1):c.2148dup (p.Glu717fs)	rs2116384782
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)	rs139039122

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