ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122

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