List of variants studied for Congenital myotonia, autosomal recessive form by MGZ Medical Genetics Center

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Total variants: 16

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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.1064G>A (p.Gly355Glu)	rs1282349760	0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	rs121912805	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.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)	rs1803111906
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
NM_000083.3(CLCN1):c.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.980-3C>G	rs1802714707

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