ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr) rs1319094688
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) rs2116838620
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428

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