ClinVar Miner

List of variants studied for muscular channelopathy by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (42):

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
Thomsen and Becker disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)	rs202067116	0.00007
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)	rs367560052	0.00001
NM_000083.3(CLCN1):c.1051T>G (p.Phe351Val)	rs2116853000
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp)	rs1554434857
NM_000334.4(SCN4A):c.825C>A (p.Asn275Lys)	rs199789700
NM_000540.3(RYR1):c.10118T>G (p.Val3373Gly)
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr)	rs1598211624
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	rs199473653
NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala)	rs1555603936
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)	rs199473382
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	rs199473384
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe)	rs1598211406
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820

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