List of variants in gene CLCN1 reported as pathogenic for Congenital myotonia, autosomal dominant form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	rs121912799	0.00028
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	rs80356701	0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)	rs80356703	0.00003
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)	rs764100025	0.00002
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro)	rs1279658001	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.950G>A (p.Arg317Gln)	rs80356702	0.00001
CLCN1, TRP433ARG
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys)	rs1802715644
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	rs768119034
NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr)	rs80356695
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)	rs80356694
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)	rs1460714146
NM_000083.3(CLCN1):c.2172+1G>A	rs1273524525
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)	rs80356699
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)	rs121912810
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	rs797045032
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	rs80356700
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	rs80356690
NM_000083.3(CLCN1):c.918C>A (p.Phe306Leu)
NM_000083.3(CLCN1):c.938C>T (p.Ala313Val)	rs2116852322

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