List of variants in gene CLCN1 reported as uncertain significance for Congenital myotonia, autosomal recessive 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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2284+5C>T	rs74824159	0.01735
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	rs118066140	0.00457
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)	rs185031797	0.00015
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	rs201509501	0.00014
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	rs767366093	0.00004
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)	rs146469288	0.00004
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)	rs150796358	0.00003
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu)	rs772430525	0.00001
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly)	rs555680428	0.00001
NM_000083.3(CLCN1):c.-59C>A
NM_000083.3(CLCN1):c.1027T>A (p.Phe343Ile)
NM_000083.3(CLCN1):c.1051T>G (p.Phe351Val)	rs2116853000
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp)	rs368958317
NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)
NM_000083.3(CLCN1):c.1600G>A (p.Gly534Ser)
NM_000083.3(CLCN1):c.1613A>C (p.His538Pro)
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)
NM_000083.3(CLCN1):c.1774G>A (p.Asp592Asn)
NM_000083.3(CLCN1):c.180G>A (p.Gln60=)
NM_000083.3(CLCN1):c.2284+12C>G	rs1472307602
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr)	rs1319094688
NM_000083.3(CLCN1):c.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.502C>G (p.Pro168Ala)
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)	rs746691295
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)	rs1802495428
NM_000083.3(CLCN1):c.821G>A (p.Gly274Glu)	rs2116842888
NM_000083.3(CLCN1):c.980-3C>G	rs1802714707
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)	rs780421370

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