ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295

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