ClinVar Miner

List of variants reported as likely pathogenic for muscular channelopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (43):

Acetazolamide-responsive myotonia
Achromatopsia 3
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa
Andersen Tawil syndrome
Andersen Tawil syndrome; Short QT syndrome type 1; Atrial fibrillation, familial, 1
Andersen Tawil syndrome; Short QT syndrome type 3
Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9
Central core myopathy; Malignant hyperthermia, susceptibility to, 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis
Malignant hyperthermia of anesthesia
Malignant hyperthermia of anesthesia; Neuromuscular disease
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 5
Muscular channelopathy
Myotonia congenita, atypical, acetazolamide-responsive
Myotonia fluctuans
Myotonia permanens
Normokalemic periodic paralysis, potassium-sensitive
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal
SCN4A-related channelopathy
Thomsen and Becker disease

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

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	rs144336148	0.00029
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg)	rs746125212	0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	rs193922810	0.00003
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)	rs546411827	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	rs193922797	0.00002
NM_019098.5(CNGB3):c.1320+4A>G	rs1026427970	0.00002
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu)	rs1360333956	0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)	rs80356686	0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)	rs1478129213	0.00001
NM_019098.5(CNGB3):c.1929-1G>A	rs750257554	0.00001
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)	rs756199349
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)	rs1027814542
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)	rs1803111906
NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp)
NM_000083.3(CLCN1):c.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)	rs761601545
NM_000083.3(CLCN1):c.854-1G>A
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	rs193922748
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu)	rs1974410266
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter)	rs2145918040
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter)	rs1967997615
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter)	rs759085500

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