ClinVar Miner

List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)	rs777685454	0.00006
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)	rs80356697	0.00002
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter)	rs769092535	0.00001

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