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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)	rs772150974	0.00002
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	rs767000881	0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	rs80356692	0.00001
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)	rs759761559
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)	rs1554434400
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)	rs1131691551
NM_000083.3(CLCN1):c.302-1G>A	rs529377088

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