ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001

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