List of variants reported as uncertain significance for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)	rs139262486	0.00031
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)	rs201861334	0.00030
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp)	rs146862992	0.00015
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr)	rs189963844	0.00008
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp)	rs368280521	0.00002
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met)	rs980845093
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)	rs1586486170

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