ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001

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