List of variants reported as uncertain significance for Congenital myotonia, autosomal recessive form by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2284+5C>T	rs74824159	0.01735
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	rs767366093	0.00004
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly)	rs555680428	0.00001
NM_000083.3(CLCN1):c.2284+12C>G	rs1472307602

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