List of variants reported as uncertain significance for Congenital myotonia, autosomal recessive form by MGZ Medical Genetics Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)	rs1803091318	0.00001
NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)	rs770559816
NM_000083.3(CLCN1):c.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.980-3C>G	rs1802714707

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