ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001

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