List of variants in gene CLCN1 reported as uncertain significance for congenital myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser)	rs140536210	0.00007
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)	rs775384507	0.00005
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	rs767366093	0.00004
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val)	rs746346988	0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile)	rs777708543	0.00002
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)	rs781587827	0.00001
NM_000083.3(CLCN1):c.1598C>G (p.Thr533Ser)	rs1316380335	0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr)	rs886062033	0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr)	rs140726900	0.00001
NM_000083.3(CLCN1):c.562+6A>C	rs1245612236	0.00001
NM_000083.3(CLCN1):c.697-9C>A	rs201207110	0.00001
NM_000083.3(CLCN1):c.756G>A (p.Val252=)	rs886062034	0.00001
NM_000083.3(CLCN1):c.1251+11G>T	rs780748786
NM_000083.3(CLCN1):c.1251+14G>A	rs1027351084
NM_000083.3(CLCN1):c.1254G>C (p.Leu418Phe)	rs1472138354
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu)	rs776848644
NM_000083.3(CLCN1):c.156C>T (p.Pro52=)	rs886062032
NM_000083.3(CLCN1):c.1796+2_1796+6del	rs1563084796
NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg)	rs886062035
NM_000083.3(CLCN1):c.2192dup (p.His732fs)	rs1563087702
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu)	rs1803241372
NM_000083.3(CLCN1):c.2615G>A (p.Gly872Glu)	rs1803406966
NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys)	rs886062036
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala)	rs574104250
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met)	rs980845093
NM_000083.3(CLCN1):c.563-13T>G	rs1802439916
NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu)	rs886062031

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