ClinVar Miner

List of variants reported as uncertain significance for muscular channelopathy by Baylor Genetics

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00343
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	rs199738299	0.00038
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)	rs201861334	0.00030
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)	rs142548565	0.00008
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)	rs760235443	0.00006
NM_000334.4(SCN4A):c.415A>T (p.Ile139Phe)	rs1433506611	0.00001
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg)	rs905232339	0.00001
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln)	rs778241277	0.00001
NM_000540.3(RYR1):c.3396C>G (p.His1132Gln)	rs572636254	0.00001
NM_000540.3(RYR1):c.4495T>G (p.Phe1499Val)	rs1375580585	0.00001
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala)	rs539404339
NM_000334.4(SCN4A):c.4175T>C (p.Phe1392Ser)	rs1908590856
NM_000540.3(RYR1):c.2787-15C>G
NM_000540.3(RYR1):c.4226G>A (p.Arg1409Gln)
NM_000540.3(RYR1):c.4550G>A (p.Cys1517Tyr)
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser)	rs118192161
NM_000540.3(RYR1):c.8743G>A (p.Glu2915Lys)	rs1970479129

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